Full data view for 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)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.1477A>G likely benign r.(?) p.(Ile493Val) Unknown g.183885832A>G - DVL3(NM_004423.3):c.1477A>G (p.(Ile493Val)) - DVL3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1585delG - r.(?) p.(Ala529Profs*139) Paternal (confirmed) g.183887880delG g.184170092delG - - DVL3_000003 - PubMed: White 2016, Journal: White 2016 - - Germline yes - - 0 - DNA SEQ - - DRS 26924530 BAB7990 PubMed: White 2016, Journal: White 2016 2-generation family, affected father/daughter F - - Caucasian >14y 0 - - 2 Pieter Klap
-?/. - c.1691G>C likely benign r.(?) p.(Ser564Thr) Unknown g.183887986G>C - DVL3(NM_004423.3):c.1691G>C (p.(Ser564Thr)) - AP2M1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1714+6G>A benign r.(=) p.(=) Unknown g.183888015G>A - DVL3(NM_004423.3):c.1714+6G>A (r.spl?) - AP2M1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1714+9G>A likely benign r.(=) p.(=) Unknown g.183888018G>A - DVL3(NM_004423.3):c.1714+9G>A (r.spl.?) - AP2M1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1715-1G>A - r.? p.? Unknown g.183888106G>A g.184170318G>A - - DVL3_000004 - PubMed: White 2016, Journal: White 2016 - - De novo - - - 0 - DNA SEQ - - DRS 26924530 BAB7982 PubMed: White 2016, Journal: White 2016 - M - - Caucasian >12y - - - 1 Pieter Klap
+/. - c.1716delC - r.1716del p.Ser573Valfs*95 Unknown g.183888108delC g.184170320delC - - DVL3_000002 - PubMed: White 2016, Journal: White 2016 - - De novo - - - 0 - DNA, RNA RT-PCR, SEQ - - DRS 26924530 BAB4569 PubMed: White 2016, Journal: White 2016 2-generation family, 1 affected, unaffected non-carrier parents F - - Caucasian >35y 0 - - 1 Pieter Klap
+/. - c.1749delC - r.(?) p.(Ser583Argfs*85) Maternal (confirmed) g.183888141delC g.184170353delC - - DVL3_000001 - PubMed: White 2016, Journal: White 2016 - - Germline yes - - 0 - DNA SEQ - - DRS 26924530-Pat015902 PubMed: White 2016, Journal: White 2016 2-generation family, affected mother/daughter; daughter F - - Caucasian >38y 0 - - 2 Pieter Klap
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