NM_000132.4(F8):c.5479A>T (p.Lys1827Ter) AND Hereditary factor VIII deficiency disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 1, 1993
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:: RCV000010996.4

Allele description [Variation Report for NM_000132.4(F8):c.5479A>T (p.Lys1827Ter)]

NM_000132.4(F8):c.5479A>T (p.Lys1827Ter)

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.5479A>T (p.Lys1827Ter)

Other names:

F8, LYS1827TER

HGVS:

NC_000023.11:g.154904918T>A
NG_011403.2:g.122806A>T
NM_000132.4:c.5479A>TMANE SELECT
NP_000123.1:p.Lys1827Ter
LRG_555t1:c.5479A>T
LRG_555:g.122806A>T
LRG_555p1:p.Lys1827Ter
NC_000023.10:g.154133193T>A
NG_011403.1:g.122806A>T

Protein change:

K1827*; LYS1827TER

Links:

OMIM: 300841.0200; dbSNP: rs387906457

NCBI 1000 Genomes Browser:

rs387906457

Molecular consequence:

NM_000132.4:c.5479A>T - nonsense - [Sequence Ontology: SO:0001587]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000031223	OMIM	no assertion criteria provided	Pathogenic (Dec 1, 1993)	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

SCV000031223

OMIM

no assertion criteria provided

Pathogenic
(Dec 1, 1993)

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

Characterization of genetic defects of hemophilia A in patients of Chinese origin.

Lin SW, Lin SR, Shen MC.

Genomics. 1993 Dec;18(3):496-504.

PubMed [citation]

PMID:: 8307558

Details of each submission

From OMIM, SCV000031223.1

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

Description

In 2 patients with hemophilia A (306700) and inhibitors, Lin et al. (1993) identified the mutation AAA to TAA at codon 1827 in exon 16, resulting in a stop codon.

#	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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