chr6:6318562:C>A Detail (hg38) (F13A1)

Information

Genome

Assembly Position
hg19 chr6:6,318,795-6,318,795 View the variant detail on this assembly version.
hg38 chr6:6,318,562-6,318,562

HGVS

Type Transcript Protein
RefSeq NM_000129.3:c.103G>T NP_000120.2:p.Val35Leu
Ensemble ENST00000264870.8:c.103G>T ENST00000264870.8:p.Val35Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 134570 OMIM
HGNC 3531 HGNC
Ensembl ENSG00000124491 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv259394345 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
protective 2007-04-01 no assertion criteria provided Myocardial infarction, protection against germline Detail
protective 2007-04-01 no assertion criteria provided Venous thrombosis, protection against germline Detail
Benign criteria provided, single submitter not specified germline Detail
Benign 2018-03-06 criteria provided, single submitter Factor XIII, A subunit, deficiency of germline Detail
Conflicting interpretations of pathogenicity 2018-11-11 criteria provided, conflicting interpretations not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.107 colorectal cancer Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs179988... BeFree 21422408 Detail
0.011 colorectal cancer Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs179988... BeFree 21422408 Detail
0.004 colorectal carcinoma Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs179988... BeFree 21422408 Detail
0.005 colorectal cancer Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs179988... BeFree 21422408 Detail
<0.001 colorectal carcinoma Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs179988... BeFree 21422408 Detail
0.026 colorectal carcinoma Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs179988... BeFree 21422408 Detail
0.155 myocardial infarction We therefore performed genotyping for factor XIIIA Val34Leu, Tyr204Phe and Pro56... BeFree 11841441 Detail
<0.001 arteriosclerosis Factor XIIIA Val34Leu polymorphism does not predict risk of coronary heart disea... BeFree 11834540 Detail
0.006 pulmonary embolism Frequency of the TAFI -438 G/A and factor XIIIA Val34Leu polymorphisms in patien... BeFree 12958613 Detail
0.010 Coronary heart disease A common polymorphism in the gene for factor XIII A subunit (F13A1 V34L) has bee... BeFree 11941274 Detail
0.008 pulmonary embolism Frequency of the TAFI -438 G/A and factor XIIIA Val34Leu polymorphisms in patien... BeFree 12958613 Detail
<0.001 Coronary Arteriosclerosis A common polymorphism in the gene for factor XIII A subunit (F13A1 V34L) has bee... BeFree 11941274 Detail
0.008 atherosclerosis Factor XIIIA Val34Leu polymorphism does not predict risk of coronary heart disea... BeFree 11834540 Detail
<0.001 Coronary Arteriosclerosis Factor XIIIA Val34Leu polymorphism does not predict risk of coronary heart disea... BeFree 11834540 Detail
0.013 coronary artery disease A common polymorphism in the gene for factor XIII A subunit (F13A1 V34L) has bee... BeFree 11941274 Detail
0.010 Coronary heart disease Factor XIIIA Val34Leu polymorphism does not predict risk of coronary heart disea... BeFree 11834540 Detail
0.003 Deep Vein Thrombosis A common polymorphism in the gene for factor XIII A subunit (F13A1 V34L) has bee... BeFree 11941274 Detail
<0.001 Thromboembolism Factor XIIIA-V34L and factor XIIIB-H95R in venous thromboembolism in central Ira... BeFree 24509329 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000129.4(F13A1):c.103G>T (p.Val35Leu) AND Myocardial infarction, protection against ClinVar Detail
NM_000129.4(F13A1):c.103G>T (p.Val35Leu) AND Venous thrombosis, protection against ClinVar Detail
NM_000129.4(F13A1):c.103G>T (p.Val35Leu) AND not specified ClinVar Detail
NM_000129.4(F13A1):c.103G>T (p.Val35Leu) AND Factor XIII, A subunit, deficiency of ClinVar Detail
NM_000129.4(F13A1):c.103G>T (p.Val35Leu) AND not provided ClinVar Detail
Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C&gt;T ... DisGeNET Detail
Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C&gt;T ... DisGeNET Detail
Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C&gt;T ... DisGeNET Detail
Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C&gt;T ... DisGeNET Detail
Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C&gt;T ... DisGeNET Detail
Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C&gt;T ... DisGeNET Detail
We therefore performed genotyping for factor XIIIA Val34Leu, Tyr204Phe and Pro564Leu in a population... DisGeNET Detail
Factor XIIIA Val34Leu polymorphism does not predict risk of coronary heart disease: The Atherosclero... DisGeNET Detail
Frequency of the TAFI -438 G/A and factor XIIIA Val34Leu polymorphisms in patients with objectively ... DisGeNET Detail
A common polymorphism in the gene for factor XIII A subunit (F13A1 V34L) has been associated with a ... DisGeNET Detail
Frequency of the TAFI -438 G/A and factor XIIIA Val34Leu polymorphisms in patients with objectively ... DisGeNET Detail
A common polymorphism in the gene for factor XIII A subunit (F13A1 V34L) has been associated with a ... DisGeNET Detail
Factor XIIIA Val34Leu polymorphism does not predict risk of coronary heart disease: The Atherosclero... DisGeNET Detail
Factor XIIIA Val34Leu polymorphism does not predict risk of coronary heart disease: The Atherosclero... DisGeNET Detail
A common polymorphism in the gene for factor XIII A subunit (F13A1 V34L) has been associated with a ... DisGeNET Detail
Factor XIIIA Val34Leu polymorphism does not predict risk of coronary heart disease: The Atherosclero... DisGeNET Detail
A common polymorphism in the gene for factor XIII A subunit (F13A1 V34L) has been associated with a ... DisGeNET Detail
Factor XIIIA-V34L and factor XIIIB-H95R in venous thromboembolism in central Iran: protective and ne... DisGeNET 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
-
dbSNP
rs5985 dbSNP
Genome
hg38
Position
chr6:6,318,562-6,318,562
Variant Type
snv
Reference Allele
C
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8650
East Asian Allele Counts (ExAC)
5
East Asian Heterozygous Counts (ExAC)
5
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
5.780346820809249E-4
Chromosome Counts in All Race (ExAC)
121372
Allele Counts in All Race (ExAC)
24994
Heterozygous Counts in All Race (ExAC)
19154
Homozygous Counts in All Race (ExAC)
2920
Allele Frequency in All Race (ExAC)
0.20592887980753385
Genome browser