Variant #0000333370 (NC_000023.10:g.19413216A>G, PDHA1(NM_000284.3):c.*35445A>G)

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.19413216A>G
DNA change (hg38) g.19395098A>G
Published as MAP3K15(NM_001001671.3):c.2177T>C (p.(Met726Thr))
ISCN -
DB-ID MAP3K15_000035
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_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PDHA1 NM_000284.3 ?/. - c.*35445A>G r.(=) p.(=)
MAP3K15 NM_001001671.3 ?/. - c.2177T>C r.(?) p.(Met726Thr)