chr4:187194308:A>G Detail (hg19) (F11)

Information

Genome

Assembly Position
hg19 chr4:187,194,308-187,194,308
hg38 chr4:186,273,154-186,273,154 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000128.3:c.302A>G NP_000119.1:p.Lys101Arg
Ensemble ENST00000403665.7:c.302A>G ENST00000403665.7:p.Lys101Arg
ENST00000492972.6:c.302A>G ENST00000492972.6:p.Lys101Arg
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 264900 OMIM
HGNC 3529 HGNC
Ensembl ENSG00000088926 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided no assertion provided not provided not provided Detail
Conflicting interpretations of pathogenicity 2019-02-01 criteria provided, conflicting interpretations Hereditary factor XI deficiency disease unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.587 factor XI deficiency Genetic analysis in FXI deficiency: six novel mutations and the use of a polymer... UNIPROT 15953011 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000128.4(F11):c.302A>G (p.Lys101Arg) AND not provided ClinVar Detail
NM_000128.4(F11):c.302A>G (p.Lys101Arg) AND Hereditary factor XI deficiency disease ClinVar Detail
Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-b... 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
rs281875272 dbSNP
Genome
hg19
Position
chr4:187,194,308-187,194,308
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8648
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121190
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.251505899826718E-6
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