Full data view for gene SCNN1B

Information The variants shown are described using the NM_000336.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     
?/? 5 c.879C>T r.(?) p.(=) Unknown - VUS g.23379279C>T g.23367958C>T - - SCNN1B_000004 - PubMed: Mutesa 2008; PubMed: 19462466 - rs250563 Unknown - 0.067 - - - DNA PCR - - Healthy/Control - PubMed: Mutesa 2008; PubMed: 19462466 - - - - African/white - - - - 1 Abul Kalam Azad
-/. - c.879C>T r.(?) p.(Phe293=) Unknown - benign g.23379279C>T g.23367958C>T - - SCNN1B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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