Variant #0000575201 (NC_000023.10:g.19410478C>T, PDHA1(NM_000284.3):c.*32707C>T)

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.19410478C>T
DNA change (hg38) g.19392360C>T
Published as MAP3K15(NM_001001671.3):c.2308G>A (p.V770M)
ISCN -
DB-ID MAP3K15_000065
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PDHA1 NM_000284.3 ?/. - c.*32707C>T r.(=) p.(=)
MAP3K15 NM_001001671.3 ?/. - c.2308G>A r.(?) p.(Val770Met)