chr4:155533203:G>A Detail (hg19) (FGG)

Information

Genome

Assembly Position
hg19 chr4:155,533,203-155,533,203
hg38 chr4:154,612,051-154,612,051 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_021870.2:c.274C>T NP_068656.2:p.Leu92Phe
NM_000509.5:c.274C>T NP_000500.2:p.Leu92Phe
Ensemble ENST00000407946.5:c.274C>T ENST00000407946.5:p.Leu92Phe
Summary

MGeND

Clinical significance Benign
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.004
ToMMo:0.005
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.004

Prediction

ClinVar

Clinical Significance Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 134850 OMIM
HGNC 3694 HGNC
Ensembl ENSG00000171557 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv19165136 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Benign Centenarian germline MGS000068
(TMGS000140) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2018-01-13 criteria provided, single submitter congenital afibrinogenemia germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_021870.3(FGG):c.274C>T (p.Leu92Phe) AND Congenital afibrinogenemia ClinVar 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
rs142286849 dbSNP
Genome
hg19
Position
chr4:155,533,203-155,533,203
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
114.09
Standard deviation of sample read depth (HGVD)
46.40
Number of reference allele (HGVD)
2411
Number of alternative allele (HGVD)
9
Allele Frequency (HGVD)
0.00371900826446281
Gene Symbol (HGVD)
FGG
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))
rs142286849
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0049
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
82
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8624
East Asian Allele Counts (ExAC)
33
East Asian Heterozygous Counts (ExAC)
33
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.003826530612244898
Chromosome Counts in All Race (ExAC)
120596
Allele Counts in All Race (ExAC)
33
Heterozygous Counts in All Race (ExAC)
33
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.736409167799927E-4
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