U.S. flag

An official website of the United States government

NM_000552.5(VWF):c.5459T>A (p.Val1820Glu) AND von Willebrand disease type 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 26, 2022
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:
RCV002244537.1

Allele description [Variation Report for NM_000552.5(VWF):c.5459T>A (p.Val1820Glu)]

NM_000552.5(VWF):c.5459T>A (p.Val1820Glu)

Gene:
VWF:von Willebrand factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.31
Genomic location:
Preferred name:
NM_000552.5(VWF):c.5459T>A (p.Val1820Glu)
HGVS:
  • NC_000012.12:g.6013642A>T
  • NG_009072.2:g.116029T>A
  • NM_000552.5:c.5459T>AMANE SELECT
  • NP_000543.3:p.Val1820Glu
  • LRG_587t1:c.5459T>A
  • LRG_587:g.116029T>A
  • LRG_587p1:p.Val1820Glu
  • NC_000012.11:g.6122808A>T
Protein change:
V1820E
Links:
dbSNP: rs2136405756
NCBI 1000 Genomes Browser:
rs2136405756
Molecular consequence:
  • NM_000552.5:c.5459T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
von Willebrand disease type 2 (VWD2)
Synonyms:
VON WILLEBRAND DISEASE, TYPE II; VWD, TYPE 2; VON WILLEBRAND DISEASE, TYPE 2A/IIE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0013304; MedGen: C1264040; Orphanet: 166081; Orphanet: 903; OMIM: 613554

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002513414Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico
no assertion criteria provided
Uncertain significance
(Apr 26, 2022) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, SCV002513414.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023