Full data view for gene DACT1

Information The variants shown are described using the NM_016651.5 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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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     
?/. 1 c.133C>T - r.(?) p.(Arg45Trp) Parent #1 g.59105053C>T g.58638335C>T - - DACT1_000001 - - - - Unknown - - - 0 - DNA SEQ - - NTD - - - F - China Chinese - 0 - - 1 Yunping Lei
-/. - c.268C>T benign r.(?) p.(=) Unknown g.59105188C>T - DACT1(NM_016651.5):c.268C>T (p.L90=) - DACT1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.348C>A VUS r.(?) p.(Asn116Lys) Unknown g.59107456C>A - - - DACT1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.425A>G - r.(?) p.(Asp142Gly) Parent #1 g.59107533A>G g.58640815A>G - - DACT1_000002 - - - - Unknown - - - 0 - DNA SEQ - - NTD - - - F - China Chinese - 0 - - 1 Yunping Lei
+?/. 4 c.1068C>A - r.(?) p.(Asn356Lys) Parent #1 g.59112409C>A g.58645691C>A - - DACT1_000003 - - - - Unknown - - - 0 - DNA SEQ - - NTD - - - F - China Chinese - 0 - - 1 Yunping Lei
+/. 4 c.1256G>A - r.(1256g.a) p.(Trp419*) Parent #1 g.59112597G>A g.58645879G>A - - DACT1_000006 - PubMed: Web 2017, Journal: Web 2017 - - Germline yes - - 0 - DNA SEQ-NG-I - WES ? 28054444-Fam PubMed: Web 2017, Journal: Web 2017 3-generation family, 5 affecteds (4F, M) F;M no United States - - 0 - - 5 Bryn Webb
-/. - c.1391C>T benign r.(?) p.(Ala464Val) Unknown g.59112732C>T - DACT1(NM_016651.5):c.1391C>T (p.A464V) - DACT1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1533G>A likely benign r.(?) p.(=) Unknown g.59112874G>A - DACT1(NM_016651.5):c.1533G>A (p.Q511=) - DACT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1746C>T likely benign r.(?) p.(=) Unknown g.59113087C>T - DACT1(NM_016651.5):c.1746C>T (p.S582=) - DACT1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1890G>T likely benign r.(?) p.(Lys630Asn) Unknown g.59113231G>T - DACT1(NM_016651.5):c.1890G>T (p.K630N) - DACT1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2049C>T likely benign r.(?) p.(=) Unknown g.59113390C>T - DACT1(NM_016651.5):c.2049C>T (p.A683=) - DACT1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.2105T>G - r.(?) p.(Val702Gly) Parent #1 g.59113446T>G g.58646728T>G - - DACT1_000004 - - - - Unknown - - - 0 - DNA SEQ - - NTD - - - F - China Chinese - 0 - - 1 Yunping Lei
+?/. 4 c.2423C>A - r.(?) p.(Thr808Asn) Parent #1 g.59113764C>A g.58647046C>A - - DACT1_000005 - - - - Unknown - - - 0 - DNA SEQ - - NTD - - - - - China Chinese - 0 - - 1 Yunping Lei
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