Genomic variant #0001956271

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.19379687G>C
Reference Copied from the Exome Variant Server
DB-ID PDHA1_000093
Frequency 1/10563
Freq. EA 0/6728
Freq. AA 1/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PDHA1 NM_000284.3 ?/? c.*1916G>C r.(?) p.(Pro1235Arg)
MAP3K15 NM_001001671.3 ?/? c.3704C>G r.(?) p.(Pro1235Arg)