Full data view for gene WNT7A

Information The variants shown are described using the NM_004625.3 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.315G>A r.(?) p.(Ala105=) Unknown - benign g.13896284C>T g.13854787C>T WNT7A(NM_004625.3):c.315G>A (p.A105=) - WNT7A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.325G>A r.(?) p.(Ala109Thr) Parent #1 - pathogenic g.13896274C>T g.13854777C>T - - WNT7A_000006 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs104893832 Germline - 2/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
?/. - c.355A>T r.(?) p.(Ile119Phe) Unknown - VUS g.13896244T>A g.13854747T>A WNT7A(NM_004625.3):c.355A>T (p.(Ile119Phe)) - WNT7A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.459T>C r.(?) p.(Ser153=) Unknown - benign g.13896140A>G g.13854643A>G WNT7A(NM_004625.3):c.459T>C (p.S153=) - WNT7A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.610G>A r.(?) p.(Gly204Ser) Both (homozygous) - pathogenic (recessive) g.13860881C>T g.13819384C>T NM_004625.3:c.610G>A:p.(Gly204Ser) - WNT7A_000007 - PubMed: Maddirevula 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 12DG0489 PubMed: Maddirevula 2018 isolated case F yes - Arab - 0 - - 1 -
?/. - c.1028C>T r.(?) p.(Thr343Met) Unknown - VUS g.13860463G>A g.13818966G>A WNT7A(NM_004625.3):c.1028C>T (p.(Thr343Met)) - WNT7A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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