All transcript variants in gene CASR

Information The variants shown are described using the NM_000388.3 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. - c.350A>G pathogenic r.(?) p.(Gln117Arg) - g.121976092A>G - CASR(NM_000388.3):c.350A>G (p.(Gln117Arg)) - CASR_000284 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
Legend