chr4:186273177:G>A Detail (hg38) (F11)

Information

Genome

Assembly Position
hg19 chr4:187,194,331-187,194,331 View the variant detail on this assembly version.
hg38 chr4:186,273,177-186,273,177

HGVS

Type Transcript Protein
RefSeq NM_000128.3:c.325G>A NP_000119.1:p.Ala109Thr
Ensemble ENST00000403665.7:c.325G>A ENST00000403665.7:p.Ala109Thr
ENST00000492972.6:c.325G>A ENST00000492972.6:p.Ala109Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
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 264900 OMIM
HGNC 3529 HGNC
Ensembl ENSG00000088926 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv19862777 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2017-04-27 criteria provided, conflicting interpretations Hereditary factor XI deficiency disease germline unknown Detail
Pathogenic 2022-05-27 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2020-02-07 no assertion criteria provided Plasma factor XI deficiency germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.587 factor XI deficiency NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000128.4(F11):c.325G>A (p.Ala109Thr) AND Hereditary factor XI deficiency disease ClinVar Detail
NM_000128.4(F11):c.325G>A (p.Ala109Thr) AND not provided ClinVar Detail
NM_000128.4(F11):c.325G>A (p.Ala109Thr) AND Plasma factor XI deficiency ClinVar 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
rs768474112 dbSNP
Genome
hg38
Position
chr4:186,273,177-186,273,177
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs768474112
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8644
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1568718186024989E-4
Chromosome Counts in All Race (ExAC)
121148
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.301746623964077E-5
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