Variant #0000291462 (NC_000023.10:g.19444456C>T, PDHA1(NM_000284.3):c.*66685C>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.19444456C>T
DNA change (hg38) g.19426338C>T
Published as MAP3K15(NM_001001671.3):c.1172G>A (p.R391H)
ISCN -
DB-ID MAP3K15_000044
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
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.*66685C>T r.(=) p.(=)
MAP3K15 NM_001001671.3 ?/. - c.1172G>A r.(?) p.(Arg391His)