ClinVar

NM_000552.5(VWF):c.8317T>C (p.Cys2773Arg)

Gene:

VWF:von Willebrand factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

• Chr12: 5949140 (on Assembly GRCh38)
• Chr12: 6058306 (on Assembly GRCh37)

Preferred name:

NM_000552.5(VWF):c.8317T>C (p.Cys2773Arg)

HGVS:

• NC_000012.12:g.5949140A>G
• NG_009072.1:g.180531T>C
• NG_009072.2:g.180531T>C
• NM_000552.5:c.8317T>CMANE SELECT
• NP_000543.3:p.Cys2773Arg
• LRG_587t1:c.8317T>C
• LRG_587:g.180531T>C
• LRG_587p1:p.Cys2773Arg
• NC_000012.11:g.6058306A>G
• NM_000552.2:c.8317T>C
• P04275:p.Cys2773Arg

This HGVS expression did not pass validation

Protein change:

C2773R; CYS2773ARG

Links:

UniProtKB: P04275#VAR_005822; OMIM: 613160.0024; dbSNP: rs61751310

NCBI 1000 Genomes Browser:

rs61751310

Molecular consequence:

• NM_000552.5:c.8317T>C - missense variant - [Sequence Ontology: SO:0001583]