Full data view for gene SCN4A

Information The variants shown are described using the NM_000334.4 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

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     
?/. - c.355G>A r.(?) p.(Val119Ile) Parent #1 - VUS g.62049749C>T g.63972389C>T - - SCN4A_000001 PolyPhen-2: benign (PSIC:0.001) - - rs41280110 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
?/. 2 c.355G>A r.(?) p.(Val119Ile) Unknown - VUS g.62049749C>T g.63972389C>T - - SCN4A_000001 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-?/. - c.355G>A r.(?) p.(Val119Ile) Unknown - likely benign g.62049749C>T g.63972389C>T SCN4A(NM_000334.4):c.355G>A (p.V119I) - SCN4A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.355G>A r.(?) p.(Val119Ile) Unknown - likely benign g.62049749C>T - SCN4A(NM_000334.4):c.355G>A (p.V119I) - SCN4A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query