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NG_011403.1:g.2114_5221del AND Hereditary factor VIII deficiency disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 1, 2019
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:
RCV001265077.1

Allele description [Variation Report for NG_011403.1:g.2114_5221del]

NG_011403.1:g.2114_5221del

Gene:
F8:coagulation factor VIII [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NG_011403.1:g.2114_5221del
HGVS:
  • NC_000023.11:g.155022505_155025612del
  • NG_011403.1:g.2114_5221del
  • NC_000023.10:g.154250780_154253887del
Observations:
1

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: 306700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001424860Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico
no assertion criteria provided
Pathogenic
(Jun 1, 2019) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Causasiansgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients.

Naylor JA, Green PM, Rizza CR, Giannelli F.

Hum Mol Genet. 1993 Jan;2(1):11-7.

PubMed [citation]
PMID:
8490618

Details of each submission

From Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, SCV001424860.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Causasians1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 26, 2024