Variant #0000333372 (NC_000023.10:g.19431519C>T, PDHA1(NM_000284.3):c.*53748C>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.19431519C>T
DNA change (hg38) g.19413401C>T
Published as MAP3K15(NM_001001671.3):c.1654G>A (p.(Glu552Lys))
ISCN -
DB-ID MAP3K15_000038
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) 0.0001 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PDHA1 NM_000284.3 ?/. - c.*53748C>T r.(=) p.(=)
MAP3K15 NM_001001671.3 ?/. - c.1654G>A r.(?) p.(Glu552Lys)