All transcript variants in gene DACT1

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

22 entries on 1 page. Showing entries 1 - 22.
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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     
?/. 1 c.133C>T r.(?) p.(Arg45Trp) - VUS g.59105053C>T g.58638335C>T - - DACT1_000001 - - - - Unknown - - - 0 - Yunping Lei
-?/. - c.237G>C r.(?) p.(Ala79=) - - g.59105157G>C - DACT1(NM_016651.5):c.237G>C (p.A79=) - DACT1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.268C>T r.(?) p.(Leu90=) - benign g.59105188C>T g.58638470C>T DACT1(NM_016651.5):c.268C>T (p.L90=) - DACT1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.348C>A r.(?) p.(Asn116Lys) - VUS g.59107456C>A g.58640738C>A - - DACT1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. 2 c.425A>G r.(?) p.(Asp142Gly) - VUS g.59107533A>G g.58640815A>G - - DACT1_000002 - - - - Unknown - - - 0 - Yunping Lei
+?/. 4 c.1068C>A r.(?) p.(Asn356Lys) - likely pathogenic g.59112409C>A g.58645691C>A - - DACT1_000003 - - - - Unknown - - - 0 - Yunping Lei
+?/. - c.1100C>A r.(?) p.(Thr367Lys) - likely pathogenic g.59112441C>A g.58645723C>A - - DACT1_000014 - Christians ESHG2020 C14.2 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.1100C>A r.(?) p.(Thr367Lys) - likely pathogenic g.59112441C>A g.58645723C>A - - DACT1_000014 - Christians ESHG2020 C14.2 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.1256G>A r.(1256g.a) p.(Trp419*) - pathogenic g.59112597G>A g.58645879G>A - - DACT1_000006 - PubMed: Web 2017, Journal: Web 2017 - - Germline yes - - 0 - Bryn Webb
-/. - c.1391C>T r.(?) p.(Ala464Val) - benign g.59112732C>T g.58646014C>T DACT1(NM_016651.5):c.1391C>T (p.A464V) - DACT1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.1533G>A r.(?) p.(Gln511=) - likely benign g.59112874G>A g.58646156G>A DACT1(NM_016651.5):c.1533G>A (p.Q511=) - DACT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1703G>A r.(?) p.(Arg568Lys) - likely pathogenic g.59113044G>A g.58646326G>A - - DACT1_000015 - Christians ESHG2020 C14.2 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.1746C>T r.(?) p.(Ser582=) - likely benign g.59113087C>T g.58646369C>T DACT1(NM_016651.5):c.1746C>T (p.S582=) - DACT1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1771C>T r.(?) p.(Leu591Phe) - likely pathogenic g.59113112C>T g.58646394C>T - - DACT1_000016 - Christians ESHG2020 C14.2 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.1890G>T r.(?) p.(Lys630Asn) - likely benign g.59113231G>T g.58646513G>T DACT1(NM_016651.5):c.1890G>T (p.K630N) - DACT1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1890G>T r.(?) p.(Lys630Asn) - likely pathogenic g.59113231G>T g.58646513G>T - - DACT1_000012 - Christians ESHG2020 C14.2 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.1931G>A r.(?) p.(Gly644Asp) - likely pathogenic g.59113272G>A g.58646554G>A - - DACT1_000018 - Christians ESHG2020 C14.2 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.2005C>G r.(?) p.(Pro669Ala) - likely pathogenic g.59113346C>G g.58646628C>G - - DACT1_000019 - Christians ESHG2020 C14.2 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.2049C>T r.(?) p.(Ala683=) - likely benign g.59113390C>T g.58646672C>T DACT1(NM_016651.5):c.2049C>T (p.A683=) - DACT1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 4 c.2105T>G r.(?) p.(Val702Gly) - likely pathogenic g.59113446T>G g.58646728T>G - - DACT1_000004 - - - - Unknown - - - 0 - Yunping Lei
+?/. 4 c.2423C>A r.(?) p.(Thr808Asn) - likely pathogenic g.59113764C>A g.58647046C>A - - DACT1_000005 - - - - Unknown - - - 0 - Yunping Lei
+?/. - c.2468T>G r.(?) p.(Leu823Arg) - likely pathogenic g.59113809T>G g.58647091T>G - - DACT1_000017 - Christians ESHG2020 C14.2 - - Germline - - - 0 - Johan den Dunnen
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