Genomic variant #0001953096

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.11317062C>A
Reference Copied from the Exome Variant Server
DB-ID AMELX_000027
Frequency 1/10563
Freq. EA 1/6728
Freq. AA 0/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AMELX NM_001142.2 ?/? c.539C>A r.(?) p.(Pro180Gln)
ARHGAP6 NM_013427.2 ?/? c.589-44235G>T r.(?) p.(Pro180Gln)