All transcript variants in gene CASR

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

7 entries on 1 page. Showing entries 1 - 7.
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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     
+/. - c.554G>A pathogenic r.(?) p.(Arg185Gln) - g.121980436G>A - CASR(NM_000388.3):c.554G>A (p.Arg185Gln) - CASR_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/? 4 c.554G>A - r.(?) p.(R185Q) ECD  g.121980436G>A - - - CASR_000009 copied from CASRdb PubMed: Pollak 1993 - - Germline - - - 0 - -
+/? 4 c.554G>A - r.(?) p.(R185Q) ECD  g.121980436G>A - - - CASR_000009 copied from CASRdb PubMed: Heath 1996 - - Germline - - - 0 - -
+/? 4 c.554G>A - r.(?) p.(R185Q) ECD  g.121980436G>A - - - CASR_000009 copied from CASRdb PubMed: Bai 1997 - - Germline - - - 0 - -
+/? 4 c.554G>A - r.(?) p.(R185Q) ECD  g.121980436G>A - - - CASR_000009 copied from CASRdb PubMed: Obermannova 2008 - - Germline - - - 0 - -
+/? 4 c.554G>A - r.(?) p.(R185Q) ECD  g.121980436G>A - - - CASR_000009 copied from CASRdb Christie 2007 - - Germline - - - 0 - -
+/? 4 c.554G>A - r.(?) p.(R185Q) ECD  g.121980436G>A - - - CASR_000009 copied from CASRdb Sarli 2004 - - Germline - - - 0 - -
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