NM_000133.4(F9):c.329A>G (p.Asp110Gly) AND Hereditary factor IX deficiency disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 1, 1989
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:: RCV000011326.4

Allele description [Variation Report for NM_000133.4(F9):c.329A>G (p.Asp110Gly)]

NM_000133.4(F9):c.329A>G (p.Asp110Gly)

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.329A>G (p.Asp110Gly)

Other names:

F9, ASP64GLY; D64G

HGVS:

NC_000023.11:g.139541127A>G
NG_007994.1:g.15392A>G
NM_000133.4:c.329A>GMANE SELECT
NM_001313913.2:c.277+3741A>G
NP_000124.1:p.Asp110Gly
LRG_556:g.15392A>G
NC_000023.10:g.138623286A>G

Protein change:

D110G; ASP64GLY

Links:

OMIM: 300746.0023; dbSNP: rs137852234

NCBI 1000 Genomes Browser:

rs137852234

Molecular consequence:

NM_001313913.2:c.277+3741A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000133.4:c.329A>G - 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
SCV000031557	OMIM	no assertion criteria provided	Pathogenic (Apr 1, 1989)	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

SCV000031557

OMIM

no assertion criteria provided

Pathogenic
(Apr 1, 1989)

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

Molecular pathology of haemophilia B.

Green PM, Bentley DR, Mibashan RS, Nilsson IM, Giannelli F.

EMBO J. 1989 Apr;8(4):1067-72.

PubMed [citation]

PMID:: 2743975
PMCID:: PMC400915

Details of each submission

From OMIM, SCV000031557.1

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

Description

See Green et al. (1989). The hemophilia (306900) was clinically mild.

#	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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