All transcript variants in gene CASR

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

3 entries on 1 page. Showing entries 1 - 3.
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     
+/? 3 c.413C>T - r.(?) p.(T138M) ECD  g.121976155C>T - - - CASR_000004 copied from CASRdb PubMed: Chou 1995 - - Germline - - - 0 - -
+/? 3 c.413C>T - r.(?) p.(T138M) ECD  g.121976155C>T - - - CASR_000004 copied from CASRdb PubMed: D'Souza-Li 2002 - - Germline - - - 0 - -
+?/. - c.413C>T likely pathogenic r.(?) p.(Thr138Met) - g.121976155C>T - CASR(NM_000388.3):c.413C>T (p.(Thr138Met)) - CASR_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
Legend