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.

6 entries on 1 page. Showing entries 1 - 6.
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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     
+/. - c.124C>T r.(?) p.(Arg42Ter) Unknown - pathogenic g.6279306C>T g.6277579C>T WFS1(NM_001145853.1):c.124C>T (p.(Arg42*)), WFS1(NM_006005.3):c.124C>T (p.R42*) - WFS1_000345 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.124C>T r.(?) p.(Arg42Ter) Unknown - VUS g.6279306C>T g.6277579C>T WFS1(NM_001145853.1):c.124C>T (p.(Arg42*)), WFS1(NM_006005.3):c.124C>T (p.R42*) - WFS1_000345 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.124C>T r.(?) p.(Arg42*) Parent #1 - VUS g.6279306C>T g.6277579C>T - - WFS1_000345 - MORL Deafness Variation Database, PubMed: Tranebjærg 1993, PubMed: Franks 2008, PubMed: Sandhu 2007, PubMed: Ohata 1998, PubMed: Duzkale 2013, PubMed: Fawcett 2010 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Tranebjærg 1993, PubMed: Franks 2008, PubMed: Sandhu 2007, PubMed: Ohata 1998, PubMed: Duzkale 2013, PubMed: Fawcett 2010 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+?/. - c.124C>T r.(?) p.(Arg42*) Parent #1 - likely pathogenic g.6279306C>T g.6277579C>T - - WFS1_000345 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs71530923 Germline - 4/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 4 Mohammed Faruq
+/. - c.124C>T r.(?) p.(Arg42Ter) Unknown - pathogenic g.6279306C>T g.6277579C>T WFS1(NM_001145853.1):c.124C>T (p.(Arg42*)), WFS1(NM_006005.3):c.124C>T (p.R42*) - WFS1_000345 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.124C>T r.(?) p.(Arg42Ter) Unknown - pathogenic g.6279306C>T - WFS1(NM_001145853.1):c.124C>T (p.(Arg42*)), WFS1(NM_006005.3):c.124C>T (p.R42*) - WFS1_000345 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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