All transcript variants in gene CASR

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

9 entries on 1 page. Showing entries 1 - 9.
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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.658C>T pathogenic r.(?) p.(Arg220Trp) - g.121980540C>T - CASR(NM_000388.2):c.658C>T (p.Arg220Trp) - CASR_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/? 4 c.658C>T - r.(?) p.(R220W) ECD  g.121980540C>T - - - CASR_000052 copied from CASRdb PubMed: Schwarz 2000 - - Germline - - - 0 - -
+/? 4 c.658C>T - r.(?) p.(R220W) ECD  g.121980540C>T - - - CASR_000052 copied from CASRdb PubMed: Fukimoto 2001 - - Germline - - - 0 - -
+/? 4 c.658C>T - r.(?) p.(R220W) ECD  g.121980540C>T - - - CASR_000052 copied from CASRdb PubMed: Simonds 2002 - - Germline - - - 0 - -
+/? 4 c.658C>T - r.(?) p.(R220W) ECD  g.121980540C>T - - - CASR_000052 copied from CASRdb PubMed: D'Souza-Li 2002 - - Germline - - - 0 - -
+/? 4 c.658C>T - r.(?) p.(R220W) ECD  g.121980540C>T - - - CASR_000052 copied from CASRdb PubMed: Festen-Spanjer 2007 - - Germline - - - 0 - -
+/? 4 c.658C>T - r.(?) p.(R220W) ECD  g.121980540C>T - - - CASR_000052 copied from CASRdb PubMed: Fox 2007 - - Germline - - - 0 - -
+/? 4 c.658C>T - r.(?) p.(R220W) ECD  g.121980540C>T - - - CASR_000052 copied from CASRdb PubMed: Cole 2009 - - Germline - - - 0 - -
+/? 4 c.658C>T - r.(?) p.(R220W) ECD  g.121980540C>T - - - CASR_000052 copied from CASRdb Christie 2007 - - Germline - - - 0 - -
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