Genomic variant #0001140371

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.105948394C>A
Reference Copied from the Exome Variant Server
DB-ID AASDHPPT_000001
Frequency 1/13000
Freq. EA 1/8598
Freq. AA 0/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AASDHPPT NM_015423.2 ?/? c.-44C>A r.(=) p.(=)
KBTBD3 NM_152433.3 ?/? c.-368G>T r.(=) p.(=)