chr1:169519049:> Detail (hg19) (F5)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:169,519,049-169,519,049 |
| hg38 | chr1:169,549,811-169,549,811 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
risk factor
|
2006-06-15 | no assertion criteria provided | Ischemic stroke |
germline
|
Detail |
|
risk factor
|
2006-06-15 | no assertion criteria provided | Budd-Chiari syndrome, susceptibility to |
germline
|
Detail |
|
risk factor
|
2006-06-15 | no assertion criteria provided | Pregnancy loss, recurrent, susceptibility to, 1 |
germline
|
Detail |
| Pathogenic; risk factor | 2020-03-04 | criteria provided, multiple submitters, no conflicts | factor V deficiency |
germline
maternal
|
Detail |
Conflicting interpretations of pathogenicity
|
2024-03-29 | criteria provided, conflicting interpretations | thrombophilia due to activated protein C resistance |
germline
maternal
unknown
|
Detail |
Pathogenic
|
2021-02-22 | criteria provided, single submitter | not specified |
germline
|
Detail |
|
Pathogenic
|
criteria provided, single submitter | factor V deficiency,thrombophilia due to activated protein C resistance |
germline
|
Detail | |
|
Pathogenic
|
criteria provided, single submitter | factor V deficiency,thrombophilia due to activated protein C resistance |
germline
|
Detail | |
Uncertain significance
|
2021-06-29 | no assertion criteria provided | Susceptibility to severe coronavirus disease (COVID-19) due to an impaired coagulation process |
germline
|
Detail |
|
Pathogenic
|
2018-01-23 | criteria provided, single submitter | Inborn genetic diseases |
germline
|
Detail |
drug response
|
2021-03-24 | reviewed by expert panel |
germline
|
Detail | |
|
Pathogenic
|
2024-02-06 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2024-01-31 | criteria provided, single submitter | Congenital factor V deficiency |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND Ischemic stroke | ClinVar | Detail |
| NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND Budd-Chiari syndrome, susceptibility to | ClinVar | Detail |
| NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND Pregnancy loss, recurrent, susceptibility to, 1 | ClinVar | Detail |
| NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND Factor V deficiency | ClinVar | Detail |
| NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND Thrombophilia due to activated protein C resistance | ClinVar | Detail |
| NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND not specified | ClinVar | Detail |
| NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND multiple conditions | ClinVar | Detail |
| NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND multiple conditions | ClinVar | Detail |
| NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND Susceptibility to severe coronavirus disease (COVID-19) ... | ClinVar | Detail |
| NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND Inborn genetic diseases | ClinVar | Detail |
| NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND hormonal contraceptives for systemic use response - Toxi... | ClinVar | Detail |
| NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND not provided | ClinVar | Detail |
| NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND Congenital factor V deficiency | ClinVar | Detail |
| A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q... | GWAS Catalog | Detail |
| Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two susceptibility loci for ve... | GWAS Catalog | Detail |
| Genetic Analysis of Venous Thromboembolism in UK Biobank Identifies the ZFPM2 Locus and Implicates O... | GWAS Catalog | Detail |
| Genome-wide association study of medication-use and associated disease in the UK Biobank. | GWAS Catalog | Detail |
| Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight sh... | GWAS Catalog | Detail |
| Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls id... | GWAS Catalog | Detail |
| Genome-wide association study of peripheral artery disease in the Million Veteran Program. | GWAS Catalog | Detail |
| Genomic and Transcriptomic Association Studies Identify 16 Novel Susceptibility Loci for Venous Thro... | GWAS Catalog | Detail |
| Genomic and Transcriptomic Association Studies Identify 16 Novel Susceptibility Loci for Venous Thro... | GWAS Catalog | Detail |
| Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic over... | GWAS Catalog | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg19
- Position
- chr1:169,519,049-169,519,049
- Variant Type
- snv
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