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)     

RNA change     

Protein     

P-domain     

Classification method     

Clinical classification     

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.476T>G r.(?) p.(Leu159Arg) - - likely pathogenic g.121976218T>G g.122257371T>G - - CASR_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/? 3 c.476T>G r.(?) p.(L159R) - - pathogenic g.121976218T>G g.122257371T>G - - CASR_000222 copied from CASRdb PubMed: Ho 2010 - - Germline - - - 0 - -
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