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NM_000552.5(VWF):c.8078G>A (p.Cys2693Tyr) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000086903.1

Allele description [Variation Report for NM_000552.5(VWF):c.8078G>A (p.Cys2693Tyr)]

NM_000552.5(VWF):c.8078G>A (p.Cys2693Tyr)

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.8078G>A (p.Cys2693Tyr)
HGVS:
  • NC_000012.12:g.5952428C>T
  • NG_009072.1:g.177243G>A
  • NG_009072.2:g.177243G>A
  • NM_000552.5:c.8078G>AMANE SELECT
  • NP_000543.3:p.Cys2693Tyr
  • LRG_587t1:c.8078G>A
  • LRG_587:g.177243G>A
  • LRG_587p1:p.Cys2693Tyr
  • NC_000012.11:g.6061594C>T
  • NM_000552.2:c.8078G>A
Protein change:
C2693Y
Links:
dbSNP: rs62641243
NCBI 1000 Genomes Browser:
rs62641243
Molecular consequence:
  • NM_000552.5:c.8078G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000119109Academic Unit of Haematology, University of Sheffield
no classification provided
not providednot providednot provided

Help

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, SCV000119109.1

#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: Apr 23, 2022