Variant #0000619387 (NC_000023.10:g.19425363A>G, PDHA1(NM_000284.3):c.*47592A>G)

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.19425363A>G
DNA change (hg38) g.19407245A>G
Published as MAP3K15(NM_001001671.3):c.1787T>C (p.V596A)
ISCN -
DB-ID MAP3K15_000077
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00032 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PDHA1 NM_000284.3 -?/. - c.*47592A>G r.(=) p.(=)
MAP3K15 NM_001001671.3 -?/. - c.1787T>C r.(?) p.(Val596Ala)