Full data view for gene VWDE

Information The variants shown are described using the NM_001135924.1 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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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     
+?/. - c.(879+1_880-1)_(4078+1_4079-1)del r.? p.? Unknown - likely pathogenic g.(12382805_12383820)_(12417547_12419102)del g.(12343179_12344194)_(12377921_12379476)del - - VWDE_000003 variant estimated from figure; reported as candidate gene involved in cleft lip with/without cleft palate PubMed: Lansdon 2023, Journal: Lansdon 2023 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - cleft VWDE-Pat1 PubMed: Lansdon 2023, Journal: Lansdon 2023 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.(879+1_880-1)_(4078+1_4079-1)del r.? p.? Unknown - likely pathogenic g.(12382805_12383820)_(12417547_12419102)del g.(12343179_12344194)_(12377921_12379476)del - - VWDE_000003 variant estimated from figure; reported as candidate gene involved in cleft lip with/without cleft palate PubMed: Lansdon 2023, Journal: Lansdon 2023 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - cleft VWDE-Pat2 PubMed: Lansdon 2023, Journal: Lansdon 2023 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.(879+1_880-1)_(4078+1_4079-1)del r.? p.? Unknown - likely pathogenic g.(12382805_12383820)_(12417547_12419102)del g.(12343179_12344194)_(12377921_12379476)del - - VWDE_000003 variant estimated from figure; reported as candidate gene involved in cleft lip with/without cleft palate PubMed: Lansdon 2023, Journal: Lansdon 2023 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - cleft VWDE-Pat3 PubMed: Lansdon 2023, Journal: Lansdon 2023 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.(879+1_880-1)_(4078+1_4079-1)del r.? p.? Unknown - likely pathogenic g.(12382805_12383820)_(12417547_12419102)del g.(12343179_12344194)_(12377921_12379476)del - - VWDE_000003 variant estimated from figure; reported as candidate gene involved in cleft lip with/without cleft palate PubMed: Lansdon 2023, Journal: Lansdon 2023 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - cleft VWDE-Pat4 PubMed: Lansdon 2023, Journal: Lansdon 2023 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.(879+1_880-1)_(4078+1_4079-1)del r.? p.? Unknown - likely pathogenic g.(12382805_12383820)_(12417547_12419102)del g.(12343179_12344194)_(12377921_12379476)del - - VWDE_000003 variant estimated from figure; reported as candidate gene involved in cleft lip with/without cleft palate PubMed: Lansdon 2023, Journal: Lansdon 2023 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - cleft VWDE-Pat5 PubMed: Lansdon 2023, Journal: Lansdon 2023 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.(879+1_880-1)_(4078+1_4079-1)del r.? p.? Unknown - likely pathogenic g.(12382805_12383820)_(12417547_12419102)del g.(12343179_12344194)_(12377921_12379476)del - - VWDE_000003 variant estimated from figure; reported as candidate gene involved in cleft lip with/without cleft palate PubMed: Lansdon 2023, Journal: Lansdon 2023 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - cleft VWDE-Pat6 PubMed: Lansdon 2023, Journal: Lansdon 2023 - - - - - - - - - 1 Johan den Dunnen
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