chr4:154570607:G>A Detail (hg38) (FGB)

Information

Genome

Assembly Position
hg19 chr4:155,491,759-155,491,759 View the variant detail on this assembly version.
hg38 chr4:154,570,607-154,570,607

HGVS

Type Transcript Protein
RefSeq NM_001184741.1:c.1433G>A NP_001171670.1:p.Arg478Lys
NM_005141.4:c.1433G>A NP_005132.2:p.Arg478Lys
Ensemble ENST00000302068.9:c.1433G>A ENST00000302068.9:p.Arg478Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.130
ToMMo:0.122
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.232

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 134830 OMIM
HGNC 3662 HGNC
Ensembl ENSG00000171564 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv19163474 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
other 2011-10-11 no assertion criteria provided germline Detail
Benign criteria provided, single submitter not specified germline Detail
Benign 2021-08-10 criteria provided, multiple submitters, no conflicts congenital afibrinogenemia germline Detail
Benign 2024-01-30 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.059 coronary artery disease Statistically significant results found for the various QTs and SNPs were: rs377... BeFree 22116284 Detail
0.002 coronary artery disease Statistically significant results found for the various QTs and SNPs were: rs377... BeFree 22116284 Detail
0.010 coronary artery disease Statistically significant results found for the various QTs and SNPs were: rs377... BeFree 22116284 Detail
0.150 coronary artery disease Statistically significant results found for the various QTs and SNPs were: rs377... BeFree 22116284 Detail
0.024 coronary artery disease Statistically significant results found for the various QTs and SNPs were: rs377... BeFree 22116284 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005141.4(FGB):c.1433G>A (p.Arg478Lys) AND FIBRINOGEN BALTIMORE 2 ClinVar Detail
NM_005141.4(FGB):c.1433G>A (p.Arg478Lys) AND not specified ClinVar Detail
NM_005141.4(FGB):c.1433G>A (p.Arg478Lys) AND Congenital afibrinogenemia ClinVar Detail
NM_005141.4(FGB):c.1433G>A (p.Arg478Lys) AND not provided ClinVar Detail
Statistically significant results found for the various QTs and SNPs were: rs3774933, rs230528, rs23... DisGeNET Detail
Statistically significant results found for the various QTs and SNPs were: rs3774933, rs230528, rs23... DisGeNET Detail
Statistically significant results found for the various QTs and SNPs were: rs3774933, rs230528, rs23... DisGeNET Detail
Statistically significant results found for the various QTs and SNPs were: rs3774933, rs230528, rs23... DisGeNET Detail
Statistically significant results found for the various QTs and SNPs were: rs3774933, rs230528, rs23... 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
rs4220 dbSNP
Genome
hg38
Position
chr4:154,570,607-154,570,607
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1203
Mean of sample read depth (HGVD)
171.25
Standard deviation of sample read depth (HGVD)
73.71
Number of reference allele (HGVD)
2093
Number of alternative allele (HGVD)
313
Allele Frequency (HGVD)
0.13009143807148796
Gene Symbol (HGVD)
FGB
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))
rs4220
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1222
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2048
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8632
East Asian Allele Counts (ExAC)
2001
East Asian Heterozygous Counts (ExAC)
1499
East Asian Homozygous Counts (ExAC)
251
East Asian Allele Frequency (ExAC)
0.23181186283595923
Chromosome Counts in All Race (ExAC)
121296
Allele Counts in All Race (ExAC)
21012
Heterozygous Counts in All Race (ExAC)
17018
Homozygous Counts in All Race (ExAC)
1997
Allele Frequency in All Race (ExAC)
0.17322912544519192
Genome browser