Full data view for gene WNK4

Information The variants shown are described using the NM_032387.4 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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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.16G>A r.(?) p.(Ala6Thr) Unknown - benign g.40932732G>A - WNK4(NM_032387.5):c.16G>A (p.A6T) - WNK4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1510C>T r.(?) p.(Gln504Ter) Unknown - pathogenic g.40939329C>T g.42787311C>T WNK4(NM_032387.4):c.1510C>T (p.Q504*) - WNK4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1663C>T r.(?) p.(Pro555Ser) Unknown - VUS g.40939482C>T - WNK4(NM_032387.5):c.1663C>T (p.P555S) - WNK4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1664C>G r.(?) p.(Pro555Arg) Unknown - benign g.40939483C>G g.42787465C>G WNK4(NM_032387.4):c.1664C>G (p.P555R) - WNK4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1864-2A>T r.spl? p.? Unknown - VUS g.40940146A>T g.42788128A>T WNK4(NM_032387.4):c.1864-2A>T - WNK4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1888T>C r.(?) p.(Ser630Pro) Unknown - likely benign g.40940172T>C - WNK4(NM_032387.4):c.1888T>C (p.S630P) - WNK4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2023C>T r.(?) p.(Arg675Trp) Unknown - VUS g.40940408C>T g.42788390C>T WNK4(NM_032387.4):c.2023C>T (p.R675W) - WNK4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2207G>A r.(?) p.(Arg736Gln) Unknown - VUS g.40945659G>A - WNK4(NM_032387.4):c.2207G>A (p.R736Q) - BECN1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2369C>A r.(?) p.(Thr790Asn) Unknown - likely benign g.40946808C>A g.42794790C>A WNK4(NM_032387.5):c.2369C>A (p.T790N) - WNK4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2531C>A r.(?) p.(Ser844Tyr) Unknown - VUS g.40946970C>A - WNK4(NM_032387.5):c.2531C>A (p.S844Y) - BECN1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2829C>T r.(?) p.(Ser943=) Unknown - likely benign g.40947268C>T - WNK4(NM_032387.4):c.2829C>T (p.S943=) - BECN1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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