Full data view for gene CHCHD10

Information The variants shown are described using the transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Template     

Technique     

Disease     

Reference     

Ethnic origin     

Remarks     

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Owner     
./. 2 c.48A>C r.(?) p.(=) - - Unknown g.24109774T>G Shen S et al. (2017)dbSNP CHCHD10_000010 - ? ? ALS Shen S et al. (2017) Chinese - 1 XY Liu
./. 2 c.64C>T r.(?) p.(His22Tyr) - - Unknown g.24109758G>A Jiao B et al. (2016) CHCHD10_000012 - ? ? FTLD Jiao B et al. (2016) - - 1 XY Liu
./. 2 c.67C>T r.(?) p.(Pro23Ser) - - Unknown g.24109755G>A Jiao B et al. (2016) CHCHD10_000013 - ? ? FTLD Jiao B et al. (2016) - - 1 XY Liu
./. 2 c.68C>T r.(?) p.(Pro23Leu) - - Unknown g.24109754G>A Jiao B et al. (2016) CHCHD10_000014 - ? ? FTLD Jiao B et al. (2016) - - 1 XY Liu
?/. 2 c.68C>T r.(68c>u) p.(Pro23Leu) - - Unknown g.24109754G>A Shen Shen, et al. (2017) CHCHD10_000014 - ? ? ALS Shen Shen, et al. (2017) Chinese - 1 XY Liu
./. 2 c.95C>A r.(?) p.(Ala32Asp) - - Unknown g.24109727G>T Jiao B et al. (2016) CHCHD10_000015 - ? ? FTLD Jiao B et al. (2016) - - 1 XY Liu
./. 2 c.100C>T r.(?) p.(Pro34Ser) - - Unknown g.24109722G>A Chiò A et al. (2015) CHCHD10_000003 - ? ? ALS, FTLD Chiò A et al. (2015) - - 1 XY Liu
./. 2 c.100C>T r.(?) p.(Pro34Ser) - - Unknown g.24109722G>A Abdelkarim S et al. (2016) CHCHD10_000003 - ? ? FTLD Abdelkarim S et al. (2016) - not a highly penetrant pathogenic variant 1 XY Liu
+/. 2 c.104G>A r.(?) p.(Ala35Asp) - - Unknown g.24109718del Xiao T et al. (2016) CHCHD10_000008 - ? ? AD Xiao T et al. (2016) - - 1 XY Liu
./. 2 c.141G>A r.(?) p.(=) - - Unknown g.24109681C>T Teyssou E et al. (2016) CHCHD10_000004 - ? ? ALS Teyssou E et al. (2016) French - 1 XY Liu
./. 2 c.170T>A r.(?) p.(Val57Glu) - - Unknown g.24109652A>T Jiao B et al. (2016) CHCHD10_000016 - ? ? FTLD Jiao B et al. (2016) - - 1 XY Liu
./. 2 c.176C>T r.(?) p.(Ser59Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.24109646G>A Bannwarth S1, Ait-El-Mkadem S1, Chaussenot A1, Genin EC2, Lacas-Gervais S3, Fragaki K1, Berg-Alonso L2, Kageyama Y4, Serre V5, Moore DG6, (2014) CHCHD10_000001 - ? ? ALS, FTLD Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore DG, et al. (2014) - - 1 Y Yang
?/. 2 c.197G>T r.(197g>u) p.(Gly66Val) - - Unknown g.24109625C>A Carina Lehmer, et al. (2018) CHCHD10_000022 - ? ? ALS Carina Lehmer, et al. (2018) - - 1 XY Liu
./. 2 c.234G>A r.(?) p.(=) - - Unknown g.24109588C>T Teyssou E et al. (2016) CHCHD10_000005 - ? ? ALS Teyssou E et al. (2016) French - 1 XY Liu
./. 3 c.286C>A r.(?) p.(Pro96Thr) - - Unknown g.24108438G>T Teyssou E et al. (2016) CHCHD10_000007 - ? ? ALS Teyssou E et al. (2016) French - 1 XY Liu
./. 3 c.312C>T r.(?) p.(=) - - Unknown g.24108412G>A Shen S et al. (2017)dbSNP CHCHD10_000009 - ? ? ALS Shen S et al. (2017) Chinese - 1 XY Liu
+/. 3 c.323A>C r.(323a>c) p.(Gln108Pro) - - Unknown g.24108401T>G Carina Lehmer, et al. (2018) CHCHD10_000020 - ? ? ALS Carina Lehmer, et al. (2018) - - 1 XY Liu
./. 3 c.330G>A r.(?) p.(=) - - Unknown g.24108394C>T Teyssou E et al. (2016) CHCHD10_000006 - ? ? ALS Teyssou E et al. (2016) French - 1 XY Liu
+/. 3 c.364T>C r.(364u>c) p.(Cys122Arg) - - Unknown g.24108360A>G Carina Lehmer, et al. (2018) CHCHD10_000021 - ? ? ALS Carina Lehmer, et al. (2018) - - 1 XY Liu
?/. 3 c.379G>A r.(379g>a) p.(Glu127Lys) - - Unknown g.24108345C>T Carina Lehmer, et al. (2018) CHCHD10_000023 - ? ? ALS Carina Lehmer, et al. (2018) - - 1 XY Liu
./. 3i c.410-25G>A r.(?) p.(?) - - Unknown g.24108238C>T Shen S et al. (2017) CHCHD10_000011 - ? ? ALS Shen S et al. (2017) Chinese - 1 XY Liu
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