NM_000132.4(F8):c.5167G>A (p.Glu1723Lys) AND Hereditary factor VIII deficiency disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 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:: RCV000010859.2

Allele description [Variation Report for NM_000132.4(F8):c.5167G>A (p.Glu1723Lys)]

NM_000132.4(F8):c.5167G>A (p.Glu1723Lys)

Gene:

F8:coagulation factor VIII [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_000132.4(F8):c.5167G>A (p.Glu1723Lys)

Other names:

F8, GLU1704LYS; E1704K

HGVS:

NC_000023.11:g.154928623C>T
NG_011403.2:g.99101G>A
NM_000132.4:c.5167G>AMANE SELECT
NP_000123.1:p.Glu1723Lys
LRG_555t1:c.5167G>A
LRG_555:g.99101G>A
LRG_555p1:p.Glu1723Lys
NC_000023.10:g.154156898C>T
NG_011403.1:g.99101G>A
P00451:p.Glu1723Lys

Protein change:

E1723K; GLU1704LYS

Links:

UniProtKB: P00451#VAR_001143; OMIM: 300841.0063; dbSNP: rs137852373

NCBI 1000 Genomes Browser:

rs137852373

Molecular consequence:

NM_000132.4:c.5167G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary factor VIII deficiency disease (HEMA)
Synonyms:: AUTOSOMAL HEMOPHILIA A; Hemophilia A; Hemophilia A, congenital; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010602; MedGen: C0019069; Orphanet: 98878; OMIM: 134500; OMIM: 306700

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Gm5925 predicted gene 5925 [Mus musculus]
Gm5925 predicted gene 5925 [Mus musculus]
Gene ID:546185

Gene
Gm5925 AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000031086	OMIM	no assertion criteria provided	Pathogenic (Aug 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

SCV000031086

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 1991)

germline

literature only

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

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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 mutations in two families with sporadic hemophilia A.

Paynton C, Sarkar G, Sommer SS.

Hum Genet. 1991 Aug;87(4):397-400.

PubMed [citation]

PMID:: 1908817

Details of each submission

From OMIM, SCV000031086.1

#	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 sporadic severe hemophilia A (306700), Paynton et al. (1991) identified a G-to-A transition resulting in substitution of lysine for glutamate-1704 (E1704K). The origin of the mutation was shown to be in the maternal grandfather who was 27 years old when his daughter was conceived.

#	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: Jun 17, 2024

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