NM_000552.4(VWF):c.2560C>T (p.Arg854Trp) AND not provided

Clinical significance:not provided

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000086619.1

Allele description [Variation Report for NM_000552.4(VWF):c.2560C>T (p.Arg854Trp)]

NM_000552.4(VWF):c.2560C>T (p.Arg854Trp)

Gene:
VWF:von Willebrand factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.31
Genomic location:
Preferred name:
NM_000552.4(VWF):c.2560C>T (p.Arg854Trp)
HGVS:
  • NC_000012.12:g.6034813G>A
  • NG_009072.1:g.94858C>T
  • NM_000552.4:c.2560C>T
  • NP_000543.2:p.Arg854Trp
  • NC_000012.11:g.6143979G>A
  • NM_000552.2:c.2560C>T
  • NM_000552.3:c.2560C>T
Protein change:
R854W
Links:
dbSNP: rs61748482
NCBI 1000 Genomes Browser:
rs61748482
Molecular consequence:
  • NM_000552.4:c.2560C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000118823Academic Unit of Haematology, University of Sheffieldno assertion providednot providednot providednot provided

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Academic Unit of Haematology, University of Sheffield, SCV000118823.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2021

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