Variant #0000404711 (NC_000023.10:g.19367437G>C, PDHA1(NM_000284.3):c.65G>C)

Individual ID 00180172
Chromosome X
Allele Maternal (inferred)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.19367437G>C
DNA change (hg38) g.19349319G>C
Published as -
ISCN -
DB-ID PDHA1_000029
Variant remarks -
Reference PubMed: TumienÄ— 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
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 ?/. 2 c.65G>C r.(?) p.(Arg22Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000181075 DNA SEQ-NG - WES PDHA1 3 Johan den Dunnen