chr1:197061891:C>T Detail (hg38) (F13B)

Information

Genome

Assembly Position
hg19 chr1:197,031,021-197,031,021 View the variant detail on this assembly version.
hg38 chr1:197,061,891-197,061,891

HGVS

Type Transcript Protein
RefSeq NM_001994.2:c.344G>A NP_001985.2:p.Arg115His
Ensemble ENST00000367412.2:c.344G>A ENST00000367412.2:p.Arg115His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.979
ToMMo:0.985
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.984

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 134580 OMIM
HGNC 3534 HGNC
Ensembl ENSG00000143278 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv4318015 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2005-11-01 no assertion criteria provided Venous thrombosis, susceptibility to germline Detail
Benign criteria provided, single submitter not specified germline Detail
Benign 2021-08-10 criteria provided, multiple submitters, no conflicts Factor XIII, b subunit, deficiency of germline Detail
Benign 2018-11-10 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.319 age related macular degeneration Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated ge... BeFree 23582991 Detail
0.480 age related macular degeneration Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated ge... BeFree 23582991 Detail
0.021 age related macular degeneration Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated ge... BeFree 23582991 Detail
0.005 age related macular degeneration Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated ge... BeFree 23582991 Detail
0.005 age related macular degeneration NA GAD Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001994.3(F13B):c.344G>A (p.Arg115His) AND Venous thrombosis, susceptibility to ClinVar Detail
NM_001994.3(F13B):c.344G>A (p.Arg115His) AND not specified ClinVar Detail
NM_001994.3(F13B):c.344G>A (p.Arg115His) AND Factor XIII, b subunit, deficiency of ClinVar Detail
NM_001994.3(F13B):c.344G>A (p.Arg115His) AND not provided ClinVar Detail
Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (r... DisGeNET Detail
Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (r... DisGeNET Detail
Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (r... DisGeNET Detail
Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (r... DisGeNET Detail
NA 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
rs6003 dbSNP
Genome
hg38
Position
chr1:197,061,891-197,061,891
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
114.44
Standard deviation of sample read depth (HGVD)
54.61
Number of reference allele (HGVD)
51
Number of alternative allele (HGVD)
2369
Allele Frequency (HGVD)
0.9789256198347107
Gene Symbol (HGVD)
F13B
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs6003
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9854
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16515
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8606
East Asian Allele Counts (ExAC)
8466
East Asian Heterozygous Counts (ExAC)
136
East Asian Homozygous Counts (ExAC)
4165
East Asian Allele Frequency (ExAC)
0.9837322798047874
Chromosome Counts in All Race (ExAC)
120870
Allele Counts in All Race (ExAC)
105395
Heterozygous Counts in All Race (ExAC)
10749
Homozygous Counts in All Race (ExAC)
47323
Allele Frequency in All Race (ExAC)
0.8719698850004136
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