Full data view for gene WNT10A

Information The variants shown are described using the NM_025216.2 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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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     
+/. 2 c.321C>A r.(?) p.(Cys107*) Parent #1 - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - {CVvar:4461} - rs121908119 Germline - - - - - DNA SEQ - - hypodontia - publication pending, under revision - M no Netherlands Dutch - - - - 1 Hans K Ploos van Amstel
+/. 2 c.321C>A r.(?) p.(Cys107*) Parent #1 - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - {CVvar:4461} - rs121908119 Germline - - - - - DNA SEQ - - hypodontia - publication pending, under revision - F no Netherlands Dutch - - - - 1 Hans K Ploos van Amstel
+/. 2 c.321C>A r.(?) p.(Cys107*) Parent #1 - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - {CVvar:4461} - rs121908119 Germline - - - - - DNA SEQ - - hypodontia - publication pending, under revision - F no Netherlands Dutch - - - - 1 Hans K Ploos van Amstel
+/. 2 c.321C>A r.(?) p.(Cys107*) Parent #1 - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - {CVvar:4461} - rs121908119 Germline - - - - - DNA SEQ - - hypodontia - publication pending, under revision - M no Netherlands Dutch - - - - 1 Hans K Ploos van Amstel
+/. 2 c.321C>A r.(?) p.(Cys107*) Parent #1 - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - {CVvar:4461} - rs121908119 Germline - - - - - DNA SEQ - - hypodontia - publication pending, under revision - M no Netherlands Dutch - - - - 1 Hans K Ploos van Amstel
+/. 2 c.321C>A r.(?) p.(Cys107*) Parent #1 - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - {CVvar:4461} - rs121908119 Germline - - - - - DNA SEQ - - hypodontia - publication pending, under revision - M no Netherlands Dutch - - - - 1 Hans K Ploos van Amstel
+/. 2 c.321C>A r.(?) p.(Cys107*) Parent #1 - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - {CVvar:4461} - rs121908119 Germline - - - - - DNA SEQ - - hypodontia - publication pending, under revision - M no Netherlands Dutch - - - - 1 Hans K Ploos van Amstel
+/. 2 c.321C>A r.(?) p.(Cys107*) Parent #1 - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - {CVvar:4461} - rs121908119 Germline - - - - - DNA SEQ - - hypodontia - publication pending, under revision - F no Netherlands Dutch - - - - 1 Hans K Ploos van Amstel
+/. 2 c.321C>A r.(?) p.(Cys107*) Parent #1 - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - {CVvar:4461} - rs121908119 Germline - - - - - DNA SEQ - - hypodontia - publication pending, under revision - F no Netherlands Dutch - - - - 1 Hans K Ploos van Amstel
+/. 2 c.321C>A r.(?) p.(Cys107*) Parent #1 - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - {CVvar:4461} - rs121908119 Germline - - - - - DNA SEQ - - hypodontia - publication pending, under revision - M no Netherlands Dutch - - - - 1 Hans K Ploos van Amstel
+/. 2 c.321C>A r.(?) p.(Cys107*) Parent #1 - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - {CVvar:4461} - rs121908119 Germline - - - - - DNA SEQ - - hypodontia - publication pending, under revision - M no Netherlands Dutch - - - - 1 Hans K Ploos van Amstel
+/. 2 c.321C>A r.(?) p.(Cys107*) Parent #1 - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - {CVvar:4461} - rs121908119 Germline - - - - - DNA SEQ - - hypodontia - publication pending, under revision - M no Netherlands Dutch - - - - 1 Hans K Ploos van Amstel
+/. 2 c.321C>A r.(?) p.(Cys107*) Parent #1 - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - {CVvar:4461} - rs121908119 Germline - - - - - DNA SEQ - - hypodontia - publication pending, under revision - M no Netherlands Dutch - - - - 1 Hans K Ploos van Amstel
+/. 2 c.321C>A r.(?) p.(Cys107*) Parent #1 - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - {CVvar:4461} - rs121908119 Germline - - - - - DNA SEQ - - hypodontia - publication pending, under revision - F no Netherlands Dutch - - - - 1 Hans K Ploos van Amstel
+/. 2 c.321C>A r.(?) p.(Cys107*) Parent #1 - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - {CVvar:4461} - rs121908119 Germline - - - - - DNA SEQ - - hypodontia - publication pending, under revision - F no Netherlands Dutch - - - - 1 Hans K Ploos van Amstel
+/. 2 c.321C>A r.(?) p.(Cys107*) Parent #2 - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - {CVvar:4461} - rs121908119 Germline - - - - - DNA SEQ - - hypodontia - publication pending, under revision - F no Netherlands Dutch - - - - 1 Hans K Ploos van Amstel
+/. - c.321C>A r.(?) p.(Cys107Ter) Unknown - pathogenic g.219747090C>A g.218882368C>A WNT10A(NM_025216.2):c.321C>A (p.C107*), WNT10A(NM_025216.3):c.321C>A (p.(Cys107Ter), p.C107*) - WNT10A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.321C>A r.(?) p.(Cys107Ter) Unknown - pathogenic g.219747090C>A g.218882368C>A WNT10A(NM_025216.2):c.321C>A (p.C107*), WNT10A(NM_025216.3):c.321C>A (p.(Cys107Ter), p.C107*) - WNT10A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.321C>A r.(?) p.(Cys107Ter) Unknown - pathogenic g.219747090C>A g.218882368C>A WNT10A(NM_025216.2):c.321C>A (p.C107*), WNT10A(NM_025216.3):c.321C>A (p.(Cys107Ter), p.C107*) - WNT10A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.321C>A r.(?) p.(Cys107Ter) Unknown - pathogenic g.219747090C>A g.218882368C>A WNT10A(NM_025216.2):c.321C>A (p.C107*), WNT10A(NM_025216.3):c.321C>A (p.(Cys107Ter), p.C107*) - WNT10A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.321C>A r.(?) p.(Cys107Ter) Unknown - pathogenic g.219747090C>A g.218882368C>A WNT10A(NM_025216.2):c.321C>A (p.C107*), WNT10A(NM_025216.3):c.321C>A (p.(Cys107Ter), p.C107*) - WNT10A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.321C>A r.(?) p.(Cys107Ter) Unknown - pathogenic g.219747090C>A - WNT10A(NM_025216.2):c.321C>A (p.C107*), WNT10A(NM_025216.3):c.321C>A (p.(Cys107Ter), p.C107*) - WNT10A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.321C>A r.(?) p.(Cys107Ter) Both (homozygous) - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - PubMed: Prasad 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - disease gene panel STHAG V2.55 PubMed: Prasad 2016 - F - - - - - - - 1 Johan den Dunnen
+/. - c.321C>A r.(?) p.(Cys107Ter) Parent #2 - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - PubMed: Prasad 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - disease gene panel STHAG V2.71 PubMed: Prasad 2016 - M - - - - - - - 1 Johan den Dunnen
+/. - c.321C>A r.(?) p.(Cys107Ter) Unknown - pathogenic g.219747090C>A g.218882368C>A - - WNT10A_000004 - PubMed: Prasad 2016 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - disease gene panel STHAG V2.72 PubMed: Prasad 2016 - M - - - - - - - 1 Johan den Dunnen
+/. 2 c.321C>A r.(?) p.(Cys107Ter) Both (homozygous) - pathogenic (recessive) g.219747090C>A g.218882368C>A - - WNT10A_000004 - PubMed: Martínez-Romero 2019 - - Germline - - - - - DNA SEQ - - SSPS Pat49 PubMed: Martínez-Romero 2019 - M - Spain - - - - - 1 Johan den Dunnen
+?/. 2 c.321C>A r.(?) p.(Cys107Ter) Parent #2 - likely pathogenic (recessive) g.219747090C>A g.218882368C>A - - WNT10A_000004 - PubMed: Martínez-Romero 2019 - - Germline - - - - - DNA SEQ - - ? Pat27 PubMed: Martínez-Romero 2019 - F - Spain - - - - - 1 Johan den Dunnen
+/. - c.321C>A r.(?) p.(Cys107*) Maternal (confirmed) - pathogenic (dominant) g.219747090C>A g.218882368C>A - - WNT10A_000004 - PubMed: Washington 2023 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WE, WGS IP, MD, STHAG patient PubMed: Washington 2023 2-generation family, 1 affected, unaffected heterozygous parents F - United States - - - - - 1 Johan den Dunnen
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