Genomic variant #0001953083

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.11316672C>T
Reference Copied from the Exome Variant Server
DB-ID AMELX_000014
Frequency 3/10563
Freq. EA 0/6728
Freq. AA 3/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AMELX NM_001142.2 ?/? c.149C>T r.(?) p.(Pro50Leu)
ARHGAP6 NM_013427.2 ?/? c.589-43845G>A r.(?) p.(Pro50Leu)