NM_000133.4(F9):c.1120G>T (p.Val374Phe) AND Hereditary factor IX deficiency disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 1991
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:: RCV000011385.5

Allele description [Variation Report for NM_000133.4(F9):c.1120G>T (p.Val374Phe)]

NM_000133.4(F9):c.1120G>T (p.Val374Phe)

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.1120G>T (p.Val374Phe)

Other names:

F9, VAL328PHE; V328F

HGVS:

NC_000023.11:g.139561805G>T
NG_007994.1:g.36070G>T
NM_000133.4:c.1120G>TMANE SELECT
NM_001313913.2:c.1006G>T
NP_000124.1:p.Val374Phe
NP_001300842.1:p.Val336Phe
LRG_556:g.36070G>T
NC_000023.10:g.138643964G>T

Protein change:

V336F; VAL328PHE

Links:

OMIM: 300746.0083; dbSNP: rs137852271

NCBI 1000 Genomes Browser:

rs137852271

Molecular consequence:

NM_000133.4:c.1120G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001313913.2:c.1006G>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
SCV000031617	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 1991)	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

SCV000031617

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 1991)

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

Identification of haemophilia B patients with mutations in the two calcium binding domains of factor IX: importance of a beta-OH Asp 64----Asn change.

Winship PR, Dragon AC.

Br J Haematol. 1991 Jan;77(1):102-9. Erratum in: Br J Haematol 1991 Mar;77(3):446.

PubMed [citation]

PMID:: 1998585

Details of each submission

From OMIM, SCV000031617.2

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

Description

Winship (1990) found a substitution of valine by phenylalanine at residue 328 in exon h of factor IX in a patient with hemophilia B (306900) referred to as hemophilia B Oxford h5 (Oxh5). The substitution was caused by a G-to-T transversion at nucleotide 31103. Arg327-val328 is the major thrombin cleavage site in factor IX. Winship (1990) suggested that the mutant protein may have increased susceptibility to thrombin cleavage with resulting in vivo instability of the mutant protein.

#	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: Mar 4, 2023

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