Variant #0000629272 (NC_000023.10:g.19368199C>T, PDHA1(NM_000284.3):c.262C>T)

Individual ID 00274153
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.19368199C>T
DNA change (hg38) g.19350081C>T
Published as -
ISCN -
DB-ID PDHA1_000033
Variant remarks -
Reference PubMed: Pronicka 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/113 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PDHA1 NM_000284.3 +/. - c.262C>T r.(?) p.(Arg88Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000275308 DNA SEQ;SEQ-NG - WES PDHA1 1 Johan den Dunnen