Full data view for gene WASF1

Information The variants shown are described using the NM_003931.2 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.142G>T r.(?) p.(Ala48Ser) Unknown - likely benign g.110434655C>A - WASF1(NM_003931.2):c.142G>T (p.(Ala48Ser)), WASF1(NM_003931.3):c.142G>T (p.A48S) - WASF1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.142G>T r.(?) p.(Ala48Ser) Unknown - VUS g.110434655C>A - WASF1(NM_003931.2):c.142G>T (p.(Ala48Ser)), WASF1(NM_003931.3):c.142G>T (p.A48S) - WASF1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.178C>T r.(?) p.(His60Tyr) Unknown - VUS g.110434619G>A - WASF1(NM_003931.3):c.178C>T (p.H60Y) - WASF1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.301T>C r.(?) p.(Phe101Leu) Unknown - VUS g.110429852A>G - - - WASF1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.833C>T r.(?) p.(Pro278Leu) Unknown - likely benign g.110424641G>A - WASF1(NM_003931.3):c.833C>T (p.P278L) - WASF1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.866A>T r.(?) p.(Asp289Val) Unknown - VUS g.110424608T>A g.110103405T>A WASF1(NM_003931.3):c.866A>T (p.D289V) - WASF1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1382C>T r.(?) p.(Thr461Ile) Unknown - likely benign g.110422931G>A - WASF1(NM_003931.3):c.1382C>T (p.(Thr461Ile), p.T461I) - WASF1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1382C>T r.(?) p.(Thr461Ile) Unknown - likely benign g.110422931G>A - WASF1(NM_003931.3):c.1382C>T (p.(Thr461Ile), p.T461I) - WASF1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1411C>T r.(?) p.(Pro471Ser) Unknown - likely benign g.110422902G>A - WASF1(NM_003931.2):c.1411C>T (p.(Pro471Ser)) - WASF1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1482delinsGCCAGG r.(?) p.(Ile494Metfs*23) Unknown - pathogenic (dominant) g.110422831delinsCCTGGC g.110101628delinsCCTGGC - - WASF1_000003 - PubMed: Ito 2018, Journal: Ito 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? 29961568-FamPat4 PubMed: Ito 2018, Journal: Ito 2018 2-generation family, 1 affected, unaffected non-carrier parents F - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.1516C>T r.(?) p.(Arg506*) Unknown - pathogenic (dominant) g.110422797G>A g.110101594G>A - - WASF1_000001 - PubMed: Ito 2018, Journal: Ito 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? 29961568-FamPat1 PubMed: Ito 2018, Journal: Ito 2018 2-generation family, 1 affected, unaffected non-carrier parents M - Canada - - - - - 1 Johan den Dunnen
+/. - c.1516C>T r.(?) p.(Arg506*) Unknown - pathogenic (dominant) g.110422797G>A g.110101594G>A - - WASF1_000001 - PubMed: Ito 2018, Journal: Ito 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 29961568-FamPat2 PubMed: Ito 2018, Journal: Ito 2018 2-generation family, 1 affected, unaffected non-carrier parents M - France - - - - - 1 Johan den Dunnen
+/. - c.1516C>T r.(?) p.(Arg506*) Unknown - pathogenic (dominant) g.110422797G>A g.110101594G>A - - WASF1_000001 - PubMed: Ito 2018, Journal: Ito 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? 29961568-FamPat5 PubMed: Ito 2018, Journal: Ito 2018 2-generation family, 1 affected, unaffected non-carrier parents M - France - - - - - 1 Johan den Dunnen
+/. - c.1516C>T r.(?) p.(Arg506Ter) Unknown - pathogenic g.110422797G>A g.110101594G>A - - WASF1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1535G>A r.(?) p.(Arg512His) Unknown - VUS g.110421870C>T - WASF1(NM_003931.2):c.1535G>A (p.(Arg512His)) - WASF1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1558C>T r.(?) p.(Gln520*) Unknown - pathogenic (dominant) g.110421847G>A g.110100644G>A - - WASF1_000002 - PubMed: Ito 2018, Journal: Ito 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? 29961568-FamPat3 PubMed: Ito 2018, Journal: Ito 2018 2-generation family, 1 affected, unaffected non-carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.