Full data view for 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.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/? 3 c.386G>A r.(?) p.(C129Y) ECD  Unknown - pathogenic g.121976128G>A g.122257281G>A - - CASR_000101 copied from CASRdb PubMed: Burren 2005 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.386G>A r.(?) p.(C129Y) ECD  Unknown - pathogenic g.121976128G>A g.122257281G>A - - CASR_000101 copied from CASRdb Christie 2007 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.386G>A r.(?) p.(C129Y) - Unknown - pathogenic g.121976128G>A g.122257281G>A - - CASR_000101 copied from CASRdb PubMed: Burren 2005 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
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