NM_000133.4(F9):c.872A>T (p.Glu291Val) AND Hereditary factor IX deficiency disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 1992
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000011398.5

Allele description [Variation Report for NM_000133.4(F9):c.872A>T (p.Glu291Val)]

NM_000133.4(F9):c.872A>T (p.Glu291Val)

Gene:

F9:coagulation factor IX [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq27.1

Genomic location:

Preferred name:

NM_000133.4(F9):c.872A>T (p.Glu291Val)

Other names:

F9, GLU245VAL; E245V

HGVS:

NC_000023.11:g.139561557A>T
NG_007994.1:g.35822A>T
NM_000133.4:c.872A>TMANE SELECT
NM_001313913.2:c.758A>T
NP_000124.1:p.Glu291Val
NP_001300842.1:p.Glu253Val
LRG_556:g.35822A>T
NC_000023.10:g.138643716A>T
P00740:p.Glu291Val

Protein change:

E253V; GLU245VAL

Links:

UniProtKB: P00740#VAR_017314; OMIM: 300746.0096; dbSNP: rs137852279

NCBI 1000 Genomes Browser:

rs137852279

Molecular consequence:

NM_000133.4:c.872A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001313913.2:c.758A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary factor IX deficiency disease (HEMB)
Synonyms:: F9 DEFICIENCY; PLASMA THROMBOPLASTIN COMPONENT DEFICIENCY; Hemophilia B; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010604; MeSH: D002836; MedGen: C0008533; Orphanet: 98879; OMIM: 306900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000031630	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 1992)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000031630

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 1992)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX.

Ludwig M, Sabharwal AK, Brackmann HH, Olek K, Smith KJ, Birktoft JJ, Bajaj SP.

Blood. 1992 Mar 1;79(5):1225-32.

PubMed [citation]

PMID:: 1346975

Details of each submission

From OMIM, SCV000031630.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a patient with hemophilia B (306900), Ludwig et al. (1992) identified an A-to-T transversion at nucleotide 30855, resulting in substitution of valine for glutamic acid-245. The variant was designated factor IX Monschau.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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