All transcript variants in gene CASR

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/? 2 c.61G>A - r.(?) p.(G21R) ECD  g.121973097G>A - - - CASR_000131 copied from CASRdb PubMed: Nissen 2007 - - Germline - - - 0 - -
+?/. - c.61G>A likely pathogenic r.(?) p.(Gly21Arg) - g.121973097G>A - CASR(NM_000388.3):c.61G>A (p.(Gly21Arg)) - CASR_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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