Variant #0000393046 (NC_000023.10:g.19379640G>C, PDHA1(NM_000284.3):c.*1869G>C)

Individual ID 00172306
Chromosome X
Allele Parent #1
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.19379640G>C
DNA change (hg38) g.19361522G>C
Published as 2176C>G (Q726E)
ISCN -
DB-ID MAP3K15_000003
Variant remarks recurrent, found 2 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 2/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00365 View details
Owner Lucy Raymond
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PDHA1 NM_000284.3 ./. - c.*1869G>C r.(=) p.(=)
MAP3K15 NM_001001671.3 ?/. - c.3751C>G r.(?) p.(Gln1251Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000173189 DNA SEQ - - MAP3K15 1 Lucy Raymond