NM_000132.4(F8):c.5533A>C (p.Thr1845Pro) AND Hereditary factor VIII deficiency disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 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:: RCV000010995.6

Allele description [Variation Report for NM_000132.4(F8):c.5533A>C (p.Thr1845Pro)]

NM_000132.4(F8):c.5533A>C (p.Thr1845Pro)

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.5533A>C (p.Thr1845Pro)

Other names:

F8, THR1826PRO; T1826P

HGVS:

NC_000023.11:g.154904864T>G
NG_011403.2:g.122860A>C
NM_000132.4:c.5533A>CMANE SELECT
NP_000123.1:p.Thr1845Pro
LRG_555t1:c.5533A>C
LRG_555:g.122860A>C
LRG_555p1:p.Thr1845Pro
NC_000023.10:g.154133139T>G
NG_011403.1:g.122860A>C
P00451:p.Thr1845Pro

Protein change:

T1845P; THR1826PRO

Links:

UniProtKB: P00451#VAR_001157; OMIM: 300841.0199; dbSNP: rs28933676

NCBI 1000 Genomes Browser:

rs28933676

Molecular consequence:

NM_000132.4:c.5533A>C - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000031222	OMIM	no assertion criteria provided	Pathogenic (Jul 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

SCV000031222

OMIM

no assertion criteria provided

Pathogenic
(Jul 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

Detection of mutations in the factor VIII gene using single-stranded conformational polymorphism (SSCP).

Economou EP, Kazazian HH Jr, Antonarakis SE.

Genomics. 1992 Jul;13(3):909-11. No abstract available.

PubMed [citation]

PMID:: 1639429

Details of each submission

From OMIM, SCV000031222.2

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

Description

Economou et al. (1992) found this mutation in a patient with mild hemophilia A (306700). The mutation was caused by an ACT-to-CCT transversion at codon 1826 in exon 16 of the A3 domain, resulting in proline for threonine-1826.

#	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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