Full data view for gene VWA1

Information The variants shown are described using the NM_022834.4 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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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.62_71dup r.(?) p.(Gly25Argfs*74) Both (homozygous) ACMG pathogenic (recessive) g.1371190_1371199dup g.1435810_1435819dup - - VWA1_000004 - Pagnamenta ESHG2020 C20.1, PubMed: Pagnamenta 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam1 Pagnamenta ESHG2020 C20.1, PubMed: Pagnamenta 2021 2-generation family, 1 affected, unaffected parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.62_71dup r.(?) p.(Gly25Argfs*74) Both (homozygous) ACMG pathogenic (recessive) g.1371190_1371199dup g.1435810_1435819dup - - VWA1_000004 - Pagnamenta ESHG2020 C20.1, PubMed: Pagnamenta 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam2 Pagnamenta ESHG2020 C20.1, PubMed: Pagnamenta 2021 2-generation family, 1 affected, unaffected parents F - - - - - - - 1 Johan den Dunnen
+/. - c.62_71dup r.(?) p.(Gly25Argfs*74) Parent #1 ACMG pathogenic (recessive) g.1371190_1371199dup g.1435810_1435819dup - - VWA1_000004 - Pagnamenta ESHG2020 C20.1, PubMed: Pagnamenta 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam3 Pagnamenta ESHG2020 C20.1, PubMed: Pagnamenta 2021 2-generation family, 1 affected, unaffected parents M - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.62_71dup r.(?) p.(Gly25Argfs*74) Both (homozygous) ACMG pathogenic (recessive) g.1371190_1371199dup g.1435810_1435819dup - - VWA1_000004 - Pagnamenta ESHG2020 C20.1, PubMed: Pagnamenta 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam4 Pagnamenta ESHG2020 C20.1, PubMed: Pagnamenta 2021 2-generation family, 1 affected, unaffected heterozygous carriermother M - ? (unknown);United Kingdom (Great Britain) white;Afro-Carribbean - - - - 1 Johan den Dunnen
+/. - c.62_71dup r.(?) p.(Gly25Argfs*74) Both (homozygous) ACMG pathogenic (recessive) g.1371190_1371199dup g.1435810_1435819dup - - VWA1_000004 - Pagnamenta ESHG2020 C20.1, PubMed: Pagnamenta 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam5 Pagnamenta ESHG2020 C20.1, PubMed: Pagnamenta 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.62_71dup r.(?) p.(Gly25Argfs*74) Both (homozygous) ACMG pathogenic (recessive) g.1371190_1371199dup g.1435810_1435819dup - - VWA1_000004 - Pagnamenta ESHG2020 C20.1, PubMed: Pagnamenta 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam6 Pagnamenta ESHG2020 C20.1, PubMed: Pagnamenta 2021 2-generation family, 1 affected, unaffected parents M - - white - - - - 1 Johan den Dunnen
+/. - c.62_71dup r.(?) p.(Gly25Argfs*74) Both (homozygous) ACMG pathogenic (recessive) g.1371190_1371199dup g.1435810_1435819dup - - VWA1_000004 - Pagnamenta ESHG2020 C20.1, PubMed: Pagnamenta 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam7 Pagnamenta ESHG2020 C20.1, PubMed: Pagnamenta 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.62_71dup r.(?) p.(Gly25Argfs*74) Parent #1 ACMG pathogenic (recessive) g.1371190_1371199dup g.1435810_1435819dup - - VWA1_000004 - Pagnamenta ESHG2020 C20.1, PubMed: Pagnamenta 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam8 Pagnamenta ESHG2020 C20.1, PubMed: Pagnamenta 2021 2-generation family, 1 affected, unaffected parents F - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.62_71dup r.(?) p.(Gly25Argfs*74) Both (homozygous) ACMG pathogenic (recessive) g.1371190_1371199dup g.1435810_1435819dup - - VWA1_000004 - Pagnamenta ESHG2020 C20.1, PubMed: Pagnamenta 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam9 Pagnamenta ESHG2020 C20.1, PubMed: Pagnamenta 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.62_71dup r.(?) p.(Gly25Argfs*74) Paternal (confirmed) ACMG pathogenic (recessive) g.1371190_1371199dup g.1435810_1435819dup - - VWA1_000004 - Pagnamenta ESHG2020 C20.1, PubMed: Pagnamenta 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam10 Pagnamenta ESHG2020 C20.1, PubMed: Pagnamenta 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - England;Italy;Scotland - - - - - 1 Johan den Dunnen
+/. - c.62_71dup r.(?) p.(Gly25Argfs*74) Both (homozygous) ACMG pathogenic (recessive) g.1371190_1371199dup g.1435810_1435819dup - - VWA1_000004 - Pagnamenta ESHG2020 C20.1, PubMed: Pagnamenta 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES CMT Fam12Pat12/13 Pagnamenta ESHG2020 C20.1, PubMed: Pagnamenta 2021 2-generation family, 2 affected brothers, unaffected parents M - - white - - - - 2 Johan den Dunnen
+/. - c.62_71dup r.(?) p.(Gly25Argfs*74) Both (homozygous) ACMG pathogenic (recessive) g.1371190_1371199dup g.1435810_1435819dup - - VWA1_000004 - Pagnamenta ESHG2020 C20.1, PubMed: Pagnamenta 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam14Pat16 Pagnamenta ESHG2020 C20.1, PubMed: Pagnamenta 2021 2-generation family, 1 affected, unaffected parents M - - - - - - - 1 Johan den Dunnen
+/. - c.62_71dup r.(?) p.(Gly25Argfs*74) Paternal (confirmed) ACMG pathogenic (recessive) g.1371190_1371199dup g.1435810_1435819dup - - VWA1_000004 - Pagnamenta ESHG2020 C20.1, PubMed: Pagnamenta 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam15Pat17 Pagnamenta ESHG2020 C20.1, PubMed: Pagnamenta 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Germany - - - - - 1 Johan den Dunnen
+/. - c.62_71dup r.(?) p.(Gly25Argfs*74) Both (homozygous) ACMG pathogenic (recessive) g.1371190_1371199dup g.1435810_1435819dup - - VWA1_000004 - PubMed: Pagnamenta 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam11 PubMed: Pagnamenta 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Germany;Ireland;Italy;Netherlands;Scotland - - - - - 1 Johan den Dunnen
+/. - c.62_71dup r.(?) p.(Gly25ArgfsTer74) Parent #1 - pathogenic (recessive) g.1371190_1371199dup g.1435810_1435819dup - - VWA1_000004 - PubMed: Deschauer 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NMD Fam2PatII1 PubMed: Deschauer 2021 3-generation family, 1 affected, unaffected first cousin parents M no Germany - - - - - 1 Johan den Dunnen
+/. - c.62_71dup r.(?) p.(Gly25ArgfsTer74) Maternal (confirmed) - pathogenic (recessive) g.1371190_1371199dup g.1435810_1435819dup - - VWA1_000004 - PubMed: Deschauer 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NMD Fam4PatII1 PubMed: Deschauer 2021 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Germany - - - - - 1 Johan den Dunnen
+/. - c.62_71dup r.(?) p.(Gly25ArgfsTer74) Maternal (confirmed) - pathogenic (recessive) g.1371190_1371199dup g.1435810_1435819dup - - VWA1_000004 - PubMed: Deschauer 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NMD Fam4PatII2 PubMed: Deschauer 2021 sister F no Germany - - - - - 1 Johan den Dunnen
+/. - c.62_71dup r.(?) p.(Gly25ArgfsTer74) Both (homozygous) - pathogenic (recessive) g.1371190_1371199dup g.1435810_1435819dup - - VWA1_000004 - PubMed: Deschauer 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NMD Fam6PatII1 PubMed: Deschauer 2021 3-generation family, 1 affected, unaffected parents M no Germany - - - - - 1 Johan den Dunnen
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