Genomic variant #0001953102

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.11318786C>A
Reference Copied from the Exome Variant Server
DB-ID AMELX_000033
Frequency 1/3596
Freq. EA 0/2387
Freq. AA 1/1209
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AMELX NM_001142.2 ?/? c.*54C>A r.(=) p.(=)
ARHGAP6 NM_013427.2 ?/? c.589-45959G>T r.(=) p.(=)