NM_000132.4(F8):c.311T>A (p.Val104Asp) AND Hereditary factor VIII deficiency disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 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:: RCV000010879.5

Allele description [Variation Report for NM_000132.4(F8):c.311T>A (p.Val104Asp)]

NM_000132.4(F8):c.311T>A (p.Val104Asp)

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.311T>A (p.Val104Asp)

Other names:

F8, VAL85ASP; V85D

HGVS:

NC_000023.11:g.154997050A>T
NG_011403.2:g.30674T>A
NM_000132.4:c.311T>AMANE SELECT
NP_000123.1:p.Val104Asp
LRG_555t1:c.311T>A
LRG_555:g.30674T>A
LRG_555p1:p.Val104Asp
NC_000023.10:g.154225325A>T
NG_011403.1:g.30674T>A
P00451:p.Val104Asp

Protein change:

V104D; VAL85ASP

Links:

UniProtKB: P00451#VAR_001053; OMIM: 300841.0083; dbSNP: rs137852383

NCBI 1000 Genomes Browser:

rs137852383

Molecular consequence:

NM_000132.4:c.311T>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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000031106	OMIM	no assertion criteria provided	Pathogenic (Jan 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

SCV000031106

OMIM

no assertion criteria provided

Pathogenic
(Jan 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

Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe hemophilia A.

Diamond C, Kogan S, Levinson B, Gitschier J.

Hum Mutat. 1992;1(3):248-57.

PubMed [citation]

PMID:: 1301932

Details of each submission

From OMIM, SCV000031106.1

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

Description

Diamond et al. (1992) found this val85-to-asp mutation in a patient with mild hemophilia A (306700). The mutation is caused by a GTC-to-GAC transversion at codon 85 in exon 3 of the A1 domain.

#	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

ClinVar

Relating variation to medicine