Variant #0000002626 (NC_000001.10:g.40539204_40539207delTGAT, PPT1(NM_000310.3):c.*526_*529delATCA)

Individual ID 00002626
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.40539204_40539207delTGAT
Reference Mole et al. Eur J Paed Neurol 5 (Suppl A):7-102001
DB-ID PPT1_000051
Frequency -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
PPT1 NM_000310.3 ./. 3UTR c.*526_*529delATCA r.(=) p.(=) VariO:0141 DNA deletion -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002626 ? ? PPT1 1 Y Yang