All transcript variants in gene WNT5A

Information The variants shown are described using the NM_003392.4 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
-?/. - c.20T>C likely benign r.(?) p.(Ile7Thr) g.55514933A>G - WNT5A(NM_001256105.1):c.-26T>C (p.(=)) - WNT5A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.110C>G likely benign r.(?) p.(Ala37Gly) g.55514843G>C - WNT5A(NM_001256105.1):c.65C>G (p.(Ala22Gly)) - WNT5A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.205T>G likely pathogenic r.(?) p.(Cys69Gly) g.55513528A>C - - - WNT5A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.206G>A pathogenic r.(?) p.(Cys69Tyr) g.55513527C>T - - - WNT5A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.247T>C likely pathogenic r.(?) p.(Cys83Arg) g.55513486A>G - - - WNT5A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.325C>T - r.(?) p.(Arg109*) g.55513408G>A g.55479380G>A - - WNT5A_000001 - PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - - Germline - - - 0 - Johan den Dunnen
-/. - c.391+11A>G benign r.(=) p.(=) g.55513331T>C - - - WNT5A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.427G>T likely benign r.(?) p.(Ala143Ser) g.55508622C>A - WNT5A(NM_001256105.1):c.382G>T (p.(Ala128Ser)) - WNT5A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.499G>A VUS r.(?) p.(Ala167Thr) g.55508550C>T - - - WNT5A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.530G>C VUS r.(?) p.(Trp177Ser) g.55508519C>G - - - WNT5A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.588C>T likely benign r.(?) p.(=) g.55508461G>A - - - WNT5A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1093G>A VUS r.(?) p.(Val365Ile) g.55504170C>T - - - WNT5A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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