NM_000132.4(F8):c.5821A>G (p.Asn1941Asp) AND Hereditary factor VIII deficiency disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 1, 1990
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:: RCV000010853.6

Allele description [Variation Report for NM_000132.4(F8):c.5821A>G (p.Asn1941Asp)]

NM_000132.4(F8):c.5821A>G (p.Asn1941Asp)

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.5821A>G (p.Asn1941Asp)

Other names:

F8, ASN1922ASP; N1922D

HGVS:

NC_000023.11:g.154904083T>C
NG_011403.2:g.123641A>G
NM_000132.4:c.5821A>GMANE SELECT
NP_000123.1:p.Asn1941Asp
NP_000123.1:p.Asn1941Asp
LRG_555t1:c.5821A>G
LRG_555:g.123641A>G
LRG_555p1:p.Asn1941Asp
NC_000023.10:g.154132358T>C
NG_011403.1:g.123641A>G
NM_000132.3:c.5821A>G
P00451:p.Asn1941Asp

Protein change:

N1941D; ASN1922ASP

Links:

UniProtKB: P00451#VAR_001168; OMIM: 300841.0057; dbSNP: rs137852369

NCBI 1000 Genomes Browser:

rs137852369

Molecular consequence:

NM_000132.4:c.5821A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000031080	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 1990)	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

SCV000031080

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 1990)

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

Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene.

Traystman MD, Higuchi M, Kasper CK, Antonarakis SE, Kazazian HH Jr.

Genomics. 1990 Feb;6(2):293-301.

PubMed [citation]

PMID:: 2106480

Details of each submission

From OMIM, SCV000031080.1

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

Description

Traystman et al. (1990) demonstrated this mutation in patients with hemophilia A (306700).

#	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 9, 2024

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