All transcript variants in gene DVL3

Information The variants shown are described using the NM_004423.3 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. - c.1477A>G r.(?) p.(Ile493Val) - likely benign g.183885832A>G g.184168044A>G DVL3(NM_004423.3):c.1477A>G (p.(Ile493Val)) - DVL3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1585del r.(?) p.(Ala529Profs*139) - pathogenic g.183887880del g.184170092del - - DVL3_000003 - PubMed: White 2016, Journal: White 2016 - - Germline yes - - 0 - Pieter Klap
-?/. - c.1691G>C r.(?) p.(Ser564Thr) - likely benign g.183887986G>C g.184170198G>C - - AP2M1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1714+6G>A r.(=) p.(=) - benign g.183888015G>A g.184170227G>A - - AP2M1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1714+9G>A r.(=) p.(=) - likely benign g.183888018G>A g.184170230G>A - - AP2M1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1715-1G>A r.spl? p.? - pathogenic g.183888106G>A g.184170318G>A - - DVL3_000004 - PubMed: White 2016, Journal: White 2016 - - De novo - - - 0 - Pieter Klap
+/. - c.1716del r.1716del p.Ser573Valfs*95 - pathogenic g.183888108del g.184170320del - - DVL3_000002 - PubMed: White 2016, Journal: White 2016 - - De novo - - - 0 - Pieter Klap
+/. - c.1749del r.(?) p.(Ser583Argfs*85) - pathogenic g.183888141del g.184170353del - - DVL3_000001 - PubMed: White 2016, Journal: White 2016 - - Germline yes - - 0 - Pieter Klap
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