Genomic variant #0001956273

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.19379753A>C
Reference Copied from the Exome Variant Server
DB-ID PDHA1_000095
Frequency 2/10551
Freq. EA 1/6718
Freq. AA 1/3833
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PDHA1 NM_000284.3 ?/? c.*1982A>C r.(=) p.(=)
MAP3K15 NM_001001671.3 ?/? c.3680-42T>G r.(=) p.(=)