Genomic variant #0001219673

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.58180811T>G
Reference Copied from the Exome Variant Server
DB-ID TSFM_000036
Frequency 2/13000
Freq. EA 2/8598
Freq. AA 0/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TSFM NM_005726.5 ?/? c.361-12T>G r.(=) p.(=)