All individuals with variants in gene GCH1

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Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

Reference: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.

Ethnic origin: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).

Remarks: Remarks about the individual.

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

74 entries on 1 page. Showing entries 1 - 74.

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How to query

Individual ID	Reference	Ethnic origin	Remarks	Disease	Phenotype details	Variants	Panel size	Owner
00001047	Weber Y1, Steinberger D, Deuschl G, Benecke R, Müller U.(1997)	-	-	DMD	-	1	1	Y Yang
00001048	Weber Y1, Steinberger D, Deuschl G, Benecke R, Müller U.(1997)	-	-	DMD	-	1	1	Y Yang
00001049	Tamaru Y1, Hirano M, Ito H, Kawamura J, Matsumoto S, Imai T, Ueno S.(1998)	-	-	DMD	-	1	1	Y Yang
00001050	Furukawa Y1, Kish SJ, Bebin EM, Jacobson RD, Fryburg JS, Wilson WG, Shimadzu M, Hyland K, Trugman JM.(1998)	-	-	DMD	-	1	1	Y Yang
00001051	Skrygan M1, Bartholomé B, Bonafé L, Blau N, Bartholomé K.(2001)	-	-	DMD	-	1	1	Y Yang
00001052	Jarman PR1, Bandmann O, Marsden CD, Wood NW.(1997)	-	-	DMD	-	1	1	Y Yang
00001053	Jarman PR1, Bandmann O, Marsden CD, Wood NW.(1997)	-	-	DMD	-	1	1	Y Yang
00001054	Jarman PR1, Bandmann O, Marsden CD, Wood NW.(1997)	-	-	DMD	-	1	1	Y Yang
00001055	Jarman PR1, Bandmann O, Marsden CD, Wood NW.(1997)	-	-	DMD	-	1	1	Y Yang
00001056	Jarman PR1, Bandmann O, Marsden CD, Wood NW.(1997)	-	-	DMD	-	1	1	Y Yang
00001057	Jarman PR1, Bandmann O, Marsden CD, Wood NW.(1997)	-	-	DMD	-	1	1	Y Yang
00001058	Jarman PR1, Bandmann O, Marsden CD, Wood NW.(1997)	-	-	DMD	-	1	1	Y Yang
00001059	"Tassin J1, Dürr A, Bonnet AM, Gil R, Vidailhet M, Lücking CB, Goas JY, Durif F, Abada M, Echenne B, Motte J, Lagueny A, Lacomblez L, Jedynak P, Bartholomé B, Agid Y(2000)	-	-	DMD	-	1	1	Y Yang
00001060	Jarman PR1, Bandmann O, Marsden CD, Wood NW.(1997)	-	-	DMD	-	1	1	Y Yang
00001061	Jarman PR1, Bandmann O, Marsden CD, Wood NW.(1997)	-	-	DMD	-	1	1	Y Yang
00001062	Jarman PR1, Bandmann O, Marsden CD, Wood NW.(1997)	-	-	DMD	-	1	1	Y Yang
00001063	Ichinose H1, Ohye T, Segawa M, Nomura Y, Endo K, Tanaka H, Tsuji S, Fujita K, Nagatsu T.(1995)	-	-	DMD	-	1	1	Y Yang
00001064	Bandmann O1, Nygaard TG, Surtees R, Marsden CD, Wood NW, Harding AE.(1996)	-	-	DMD	-	1	1	Y Yang
00001065	Ichinose H1, Ohye T, Takahashi E, Seki N, Hori T, Segawa M, Nomura Y, Endo K, Tanaka H, Tsuji S, et al.(1994)	-	-	DMD	-	1	1	Y Yang
00001066	Bandmann O1, Nygaard TG, Surtees R, Marsden CD, Wood NW, Harding AE.(1996)	-	-	DMD	-	1	1	Y Yang
00001067	Ichinose H1, Ohye T, Takahashi E, Seki N, Hori T, Segawa M, Nomura Y, Endo K, Tanaka H, Tsuji S, et al.(1994)	-	-	DMD	-	1	1	Y Yang
00001068	Bandmann O1, Nygaard TG, Surtees R, Marsden CD, Wood NW, Harding AE.(1996)	-	-	DMD	-	1	1	Y Yang
00001069	Bandmann O1, Nygaard TG, Surtees R, Marsden CD, Wood NW, Harding AE.(1996)	-	-	DMD	-	1	1	Y Yang
00001070	Ichinose H1, Ohye T, Takahashi E, Seki N, Hori T, Segawa M, Nomura Y, Endo K, Tanaka H, Tsuji S, et al.(1994)	-	-	DMD	-	1	1	Y Yang
00001071	Bandmann O1, Nygaard TG, Surtees R, Marsden CD, Wood NW, Harding AE.(1996)	-	-	DMD	-	1	1	Y Yang
00001072	"Tassin J1, Dürr A, Bonnet AM, Gil R, Vidailhet M, Lücking CB, Goas JY, Durif F, Abada M, Echenne B, Motte J, Lagueny A, Lacomblez L, Jedynak P, Bartholomé B, Agid Y(2000)	-	-	DMD	-	1	1	Y Yang
00001073	Bandmann O1, Nygaard TG, Surtees R, Marsden CD, Wood NW, Harding AE.(1996)	-	-	DMD	-	1	1	Y Yang
00001074	Bandmann O1, Nygaard TG, Surtees R, Marsden CD, Wood NW, Harding AE.(1996)	-	-	DMD	-	1	1	Y Yang
00001075	Furukawa Y1, Kish SJ, Bebin EM, Jacobson RD, Fryburg JS, Wilson WG, Shimadzu M, Hyland K, Trugman JM.(1998)	-	-	DMD	-	1	1	Y Yang
00001076	Bandmann O1, Nygaard TG, Surtees R, Marsden CD, Wood NW, Harding AE.(1996)	-	-	DMD	-	1	1	Y Yang
00001077	Leuzzi V1, Carducci C, Carducci C, Cardona F, Artiola C, Antonozzi I.(2002)	-	-	DMD	-	1	1	Y Yang
00001078	Bandmann O1, Nygaard TG, Surtees R, Marsden CD, Wood NW, Harding AE.(1996)	-	-	DMD	-	1	1	Y Yang
00001079	Hirano M1, Komure O, Ueno S.(1999)	-	-	DMD	-	1	1	Y Yang
00001080	Suzuki T1, Ohye T, Inagaki H, Nagatsu T, Ichinose H.(1999)	-	-	DMD	-	1	1	Y Yang
00001081	Suzuki T1, Ohye T, Inagaki H, Nagatsu T, Ichinose H.(1999)	-	-	DMD	-	1	1	Y Yang
00001082	Suzuki T1, Ohye T, Inagaki H, Nagatsu T, Ichinose H.(1999)	-	-	DMD	-	1	1	Y Yang
00001083	Suzuki T1, Ohye T, Inagaki H, Nagatsu T, Ichinose H.(1999)	-	-	DMD	-	1	1	Y Yang
00001084	Suzuki T1, Ohye T, Inagaki H, Nagatsu T, Ichinose H.(1999)	-	-	DMD	-	1	1	Y Yang
00001085	Beyer K, Lao-Villadóniga JI, Vecino-Bilbao B, Cacabelos R, De la Fuente-Fernández R.(1997)	-	-	DMD	-	1	1	Y Yang
00001086	Suzuki T1, Ohye T, Inagaki H, Nagatsu T, Ichinose H.(1999)	-	-	DMD	-	1	1	Y Yang
00001087	"Tassin J1, Dürr A, Bonnet AM, Gil R, Vidailhet M, Lücking CB, Goas JY, Durif F, Abada M, Echenne B, Motte J, Lagueny A, Lacomblez L, Jedynak P, Bartholomé B, Agid Y(2000)	-	-	DMD	-	1	1	Y Yang
00001088	Suzuki T1, Ohye T, Inagaki H, Nagatsu T, Ichinose H.(1999)	-	-	DMD	-	1	1	Y Yang
00001089	Ohta E1, Funayama M, Ichinose H, Toyoshima I, Urano F, Matsuo M, Tomoko N, Yukihiko K, Yoshino S, Yokoyama H, Shimazu H, Maeda K, Hasegawa K, Obata F.(2006)	-	-	DMD	-	1	1	Y Yang
00001090	Furukawa Y1, Kish SJ, Bebin EM, Jacobson RD, Fryburg JS, Wilson WG, Shimadzu M, Hyland K, Trugman JM.(1998)	-	-	DMD	-	1	1	Y Yang
00001091	Furukawa Y1, Kish SJ, Bebin EM, Jacobson RD, Fryburg JS, Wilson WG, Shimadzu M, Hyland K, Trugman JM.(1998)	-	-	DMD	-	1	1	Y Yang
00001092	Brique S1, Destée A, Lambert JC, Mouroux V, Delacourte A, Amouyel P, Chartier-Harlin MC.(1999)	-	-	DMD	-	1	1	Y Yang
00001093	Hirano M1, Tamaru Y, Ito H, Matsumoto S, Imai T, Ueno S.(1996)	-	-	DMD	-	1	1	Y Yang
00001094	Steinberger D1, Korinthenberg R, Topka H, Bergh?user M, Wedde R, Müller U.(2000)	-	-	DMD	-	1	1	Y Yang
00001095	Steinberger D1, Korinthenberg R, Topka H, Bergh?user M, Wedde R, Müller U.(2000)	-	-	DMD	-	1	1	Y Yang
00001096	"Tassin J1, Dürr A, Bonnet AM, Gil R, Vidailhet M, Lücking CB, Goas JY, Durif F, Abada M, Echenne B, Motte J, Lagueny A, Lacomblez L, Jedynak P, Bartholomé B, Agid Y(2000)	-	-	DMD	-	1	1	Y Yang
00001097	"Tassin J1, Dürr A, Bonnet AM, Gil R, Vidailhet M, Lücking CB, Goas JY, Durif F, Abada M, Echenne B, Motte J, Lagueny A, Lacomblez L, Jedynak P, Bartholomé B, Agid Y(2000)	-	-	DMD	-	1	1	Y Yang
00001098	"Tassin J1, Dürr A, Bonnet AM, Gil R, Vidailhet M, Lücking CB, Goas JY, Durif F, Abada M, Echenne B, Motte J, Lagueny A, Lacomblez L, Jedynak P, Bartholomé B, Agid Y(2000)	-	-	DMD	-	1	1	Y Yang
00001099	Hwu WL1, Wang PJ, Hsiao KJ, Wang TR, Chiou YW, Lee YM.(1999)	-	-	DMD	-	1	1	Y Yang
00001155	Hu FY1, Xu YM, Yu LH, Ma MY, He XH, Zhou D.(2011)	-	-	DMD	-	1	1	Y Yang
00001156	Hu FY1, Xu YM, Yu LH, Ma MY, He XH, Zhou D.(2011)	-	-	DMD	-	1	1	Y Yang
00001157	Hu FY1, Xu YM, Yu LH, Ma MY, He XH, Zhou D.(2011)	-	-	DMD	-	1	1	Y Yang
00001158	Tachi N1, Takahashi S, Jo M, Shinoda M.(2011)	-	-	DMD	-	1	1	Y Yang
00001159	Lee JH1, Ki CS, Kim DS, Cho JW, Park KP, Kim S.(2011)	-	-	DMD	-	1	1	Y Yang
00001160	Yu L1, Zhou H, Hu F, Xu Y.(2013)	-	-	DMD	-	1	1	Y Yang
00001161	Yu L1, Zhou H, Hu F, Xu Y.(2013)	-	-	DMD	-	1	1	Y Yang
00001162	Yu L1, Zhou H, Hu F, Xu Y.(2013)	-	-	DMD	-	1	1	Y Yang
00001163	Cai C1, Shi W, Zeng Z, Zhang M, Ling C, Chen L, Cai C, Zhang B, Li WD.(2013)	-	-	DMD	-	1	1	Y Yang
00001164	Cai C1, Shi W, Zeng Z, Zhang M, Ling C, Chen L, Cai C, Zhang B, Li WD.(2013)	-	-	DMD	-	1	1	Y Yang
00001165	Cai C1, Shi W, Zeng Z, Zhang M, Ling C, Chen L, Cai C, Zhang B, Li WD.(2013)	-	-	DMD	-	1	1	Y Yang
00001166	Cai C1, Shi W, Zeng Z, Zhang M, Ling C, Chen L, Cai C, Zhang B, Li WD.(2013)	-	-	DMD	-	1	1	Y Yang
00001167	Bernal-Pacheco O1, Oyama G, Briton A, Singleton AB, Fernandez HH, Rodriguez RL, Malaty IA, Okun MS.(2013)	-	-	DMD	-	1	1	Y Yang
00001168	Kim JI1, Choi JK1, Lee JW1, Kim J2, Ki CS3, Hong JY4.(2014)	-	-	DMD	-	1	1	Y Yang
00001169	Lin Y1, Wang DN1, Chen WJ2, Lin X1, Lin MT1, Wang N3.(2014)	-	-	DMD	-	1	1	Y Yang
00001183	Kim JI1, Choi JK1, Lee JW1, Kim J2, Ki CS3, Hong JY4.(2014)	Korean	-	DMD	-	1	1	Y Yang
00001184	Mencacci NE1, Isaias IU2, Reich MM3, Ganos C4, Plagnol V5, Polke JM6, Bras J7, Hersheson J7, Stamelou M8, Pittman AM9, Noyce AJ9, Mok KY7, Opladen T10, Kunstmann E(2014)	-	-	DMD	-	1	1	Y Yang
00001185	Mencacci NE1, Isaias IU2, Reich MM3, Ganos C4, Plagnol V5, Polke JM6, Bras J7, Hersheson J7, Stamelou M8, Pittman AM9, Noyce AJ9, Mok KY7, Opladen T10, Kunstmann E(2014)	-	-	DMD	-	1	1	Y Yang
00001186	Mencacci NE1, Isaias IU2, Reich MM3, Ganos C4, Plagnol V5, Polke JM6, Bras J7, Hersheson J7, Stamelou M8, Pittman AM9, Noyce AJ9, Mok KY7, Opladen T10, Kunstmann E(2014)	-	-	DMD	-	1	1	Y Yang
00001187	Mencacci NE1, Isaias IU2, Reich MM3, Ganos C4, Plagnol V5, Polke JM6, Bras J7, Hersheson J7, Stamelou M8, Pittman AM9, Noyce AJ9, Mok KY7, Opladen T10, Kunstmann E(2014)	-	-	DMD	-	1	1	Y Yang
00001188	Lin Y1, Wang DN1, Chen WJ2, Lin X1, Lin MT1, Wang N3.(2014)	-	-	DMD	-	1	1	Y Yang

Legend

How to query

NDDVD - Neurodegenerative Diseases Variation Database

GCH1 (GTP cyclohydrolase 1)