NM_000132.4(F8):c.2044G>T (p.Val682Phe) AND Hereditary factor VIII deficiency disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 27, 2018
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:: RCV000723273.1

Allele description [Variation Report for NM_000132.4(F8):c.2044G>T (p.Val682Phe)]

NM_000132.4(F8):c.2044G>T (p.Val682Phe)

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.2044G>T (p.Val682Phe)

HGVS:

NC_000023.11:g.154947767C>A
NG_011403.2:g.79957G>T
NM_000132.4:c.2044G>TMANE SELECT
NP_000123.1:p.Val682Phe
NP_000123.1:p.Val682Phe
LRG_555t1:c.2044G>T
LRG_555:g.79957G>T
LRG_555p1:p.Val682Phe
NC_000023.10:g.154176042C>A
NG_011403.1:g.79957G>T
NM_000132.3:c.2044G>T

Protein change:

V682F

Links:

dbSNP: rs1569559755

NCBI 1000 Genomes Browser:

rs1569559755

Molecular consequence:

NM_000132.4:c.2044G>T - 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

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Coloboma, ocular, autosomal recessive
Coloboma, ocular, autosomal recessive

MedGen
Isolated microphthalmia 8
Isolated microphthalmia 8

MedGen
Oculoauricular syndrome
Oculoauricular syndrome

MedGen
JGI_CAAO1310.rev NIH_XGC_tropTe5 Xenopus tropicalis cDNA clone IMAGE:7698593 3',...
JGI_CAAO1310.rev NIH_XGC_tropTe5 Xenopus tropicalis cDNA clone IMAGE:7698593 3', mRNA sequence
gi|71934142|gnl|dbEST|30597637|gb|C 94.2|

Nucleotide
JGI_CAAR3408.rev NIH_XGC_tropLiv1 Xenopus tropicalis cDNA clone IMAGE:7735934 3'...
JGI_CAAR3408.rev NIH_XGC_tropLiv1 Xenopus tropicalis cDNA clone IMAGE:7735934 3', mRNA sequence
gi|59199306|gnl|dbEST|27736318|gb|D 87.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000854659	Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	no assertion criteria provided	Pathogenic (Apr 27, 2018)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000854659

Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

no assertion criteria provided

Pathogenic
(Apr 27, 2018)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City, SCV000854659.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 17, 2024

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