Variant #0000787347 (NC_000023.10:g.19377576_19377599del, PDHA1(NM_000284.3):c.1009-31_1009-8del)

Individual ID 00374802
Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.19377576_19377599del
DNA change (hg38) g.19359458_19359481del
Published as -
ISCN -
DB-ID PDHA1_000044
Variant remarks -
Reference PubMed: Ganapathy 2019
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 ?/. 10i c.1009-31_1009-8del r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000375996 DNA SEQ-NG - TruSight One panel PDHA1 2 Johan den Dunnen