ClinVar

NM_000552.5(VWF):c.8312G>A (p.Cys2771Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

• Chr12: 5949145 (on Assembly GRCh38)
• Chr12: 6058311 (on Assembly GRCh37)

Preferred name:

NM_000552.5(VWF):c.8312G>A (p.Cys2771Tyr)

HGVS:

• NC_000012.12:g.5949145C>T
• NG_009072.1:g.180526G>A
• NG_009072.2:g.180526G>A
• NM_000552.5:c.8312G>AMANE SELECT
• NP_000543.3:p.Cys2771Tyr
• LRG_587t1:c.8312G>A
• LRG_587:g.180526G>A
• LRG_587p1:p.Cys2771Tyr
• NC_000012.11:g.6058311C>T
• NM_000552.2:c.8312G>A

This HGVS expression did not pass validation

Protein change:

C2771Y

Links:

dbSNP: rs61751308

NCBI 1000 Genomes Browser:

rs61751308

Molecular consequence:

• NM_000552.5:c.8312G>A - missense variant - [Sequence Ontology: SO:0001583]