Full data view for gene F5

Information The variants shown are described using the NM_000130.4 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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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     
+/. 10 c.1601G>A r.1601g>a p.Arg534Gln Parent #1 - pathogenic (!) g.169519049T>C g.169549811C>T 1691G>A (Arg506Gln) - F5_000002 genome reference has variant (Favtor V Leiden) PubMed: Bertina 1994, Journal: Bertina 1994, OMIM:var0001 - rs6025 Germline yes - MnlI- - - DNA, RNA PCRdig, SEQ - - THPH2 - PubMed: Bertina 1994, Journal: Bertina 1994 4-generation family, 13 affecteds (4F, 9M) - - Netherlands - - - - - 13 Johan den Dunnen
+/. 10 c.1601G>A r.(?) p.(Arg534Gln) Parent #1 - pathogenic (!) g.169519049= g.169549811C>T 1691G>A (Arg506Gln) - F5_000002 - PubMed: Bertina 1994, Journal: Bertina 1994, OMIM:var0001 - - Germline yes 50/64 cases MnlI- - - DNA PCRdig - - THPH2 - PubMed: Bertina 1994, Journal: Bertina 1994 64 APC resistant patients of 301 with first episode deep vein thrombosis - no Netherlands - - - - - 64 Johan den Dunnen
+/. 10 c.1601G>A r.(?) p.(Arg534Gln) Both (homozygous) - pathogenic (!) g.169519049= g.169549811C>T 1691G>A (Arg506Gln) - F5_000002 - PubMed: Bertina 1994, Journal: Bertina 1994, OMIM:var0001 - - Germline yes 6/64 cases MnlI- - - DNA PCRdig - - THPH2 - PubMed: Bertina 1994, Journal: Bertina 1994 64 APC resistant patients of 301 with first episode deep vein thrombosis - no Netherlands - - - - - 64 Johan den Dunnen
+/. 10 c.1601G>A r.(?) p.(Arg534Gln) Parent #1 - pathogenic (!) g.169519049= g.169549811C>T 1691G>A (Arg506Gln) - F5_000002 - PubMed: Bertina 1994, Journal: Bertina 1994, OMIM:var0001 - rs6025 Germline - 3/64 controls MnlI- - - DNA PCR - - ? - PubMed: Bertina 1994, Journal: Bertina 1994 64 controls - no Netherlands - - - - - 64 Johan den Dunnen
+/. - c.1601G>A r.(?) p.(Arg534Gln) Both (homozygous) - pathogenic (!) g.169519049= g.169549811C>T - - F5_000002 - - - rs6025 Germline - - - - - DNA SEQ - - Healthy/Control - - - - - Germany - - - - - 1 Andreas Laner
+?/. - c.1601G>A r.(?) p.(Arg534Gln) Unknown - likely pathogenic g.169519049C>T g.169549811C>T Factor V Leiden codon 506 arginine (R) to glutamine (Q) (CGA-CAA) - F5_000002 no nucleotide annotation, extrapolated from protein, sequence and databases; by sequence, affected nucleotide is 534, in hg19 error CAA marked as reference sequence, while it should be CGA; heterozygous PubMed: Shastry 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 patient I-1 PubMed: Shastry 2004 proband F - - - - - - - 1 LOVD
+?/. - c.1601G>A r.(?) p.(Arg534Gln) Unknown - likely pathogenic g.169519049C>T g.169549811C>T Factor V Leiden codon 506 arginine (R) to glutamine (Q) (CGA-CAA) - F5_000002 no nucleotide annotation, extrapolated from protein, sequence and databases; by sequence, affected nucleotide is 534, in hg19 error CAA marked as reference sequence, while it should be CGA; heterozygous PubMed: Shastry 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 patient II-2 PubMed: Shastry 2004 proband's daughter 2 F - - - - - - - 1 LOVD
+?/. - c.1601G>A r.(?) p.(Arg534Gln) Unknown - likely pathogenic g.169519049C>T g.169549811C>T Factor V Leiden codon 506 arginine (R) to glutamine (Q) (CGA-CAA) - F5_000002 no nucleotide annotation, extrapolated from protein, sequence and databases; by sequence, affected nucleotide is 534, in hg19 error CAA marked as reference sequence, while it should be CGA; heterozygous PubMed: Shastry 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 patient II-3 PubMed: Shastry 2004 proband's daughter 3 F - - - - - - - 1 LOVD
+?/. - c.1601G>A r.(?) p.(Arg534Gln) Unknown - likely pathogenic g.169519049C>T g.169549811C>T Factor V Leiden codon 506 arginine (R) to glutamine (Q) (CGA-CAA) - F5_000002 no nucleotide annotation, extrapolated from protein, sequence and databases; by sequence, affected nucleotide is 534, in hg19 error CAA marked as reference sequence, while it should be CGA; heterozygous PubMed: Shastry 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 patient II-4 PubMed: Shastry 2004 proband's son M - - - - - - - 1 LOVD
+?/. - c.1601G>A r.(?) p.(Arg534Gln) Unknown - likely pathogenic g.169519049C>T g.169549811C>T Factor V Leiden codon 506 arginine (R) to glutamine (Q) (CGA-CAA) - F5_000002 no nucleotide annotation, extrapolated from protein, sequence and databases; by sequence, affected nucleotide is 534, in hg19 error CAA marked as reference sequence, while it should be CGA; heterozygous PubMed: Shastry 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 patient III-2 PubMed: Shastry 2004 proband's son's son 2 M - - - - - - - 1 LOVD
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This version of the database is under construction. Please refer to the EAHAD Coagulation Factor Variant Databases for current listings.

This version of the database is under construction. Please refer to the EAHAD Coagulation Factor Variant Databases for current listings.

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