Full data view for gene WFS1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_006005.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     
+/+ 2 c.173C>T r.(?) p.(Ala58Val) Parent #1 - pathogenic g.6279355C>T g.6277628C>T - - WFS1_000519 - MORL Deafness Variation Database, PubMed: Gómez-Zaera 2001 - - SUMMARY record - - - 0 - DNA ? - - WFS - PubMed: Gómez-Zaera 2001 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.173C>T r.(?) p.(Ala58Val) Unknown - VUS g.6279355C>T - WFS1(NM_001145853.1):c.173C>T (p.(Ala58Val)), WFS1(NM_006005.3):c.173C>T (p.A58V) - WFS1_000519 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.173C>T r.(?) p.(Ala58Val) Unknown - VUS g.6279355C>T - WFS1(NM_001145853.1):c.173C>T (p.(Ala58Val)), WFS1(NM_006005.3):c.173C>T (p.A58V) - WFS1_000519 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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