ClinVar

NM_000552.5(VWF):c.8402C>A (p.Ala2801Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

• Chr12: 5949055 (on Assembly GRCh38)
• Chr12: 6058221 (on Assembly GRCh37)

Preferred name:

NM_000552.5(VWF):c.8402C>A (p.Ala2801Asp)

HGVS:

• NC_000012.12:g.5949055G>T
• NG_009072.1:g.180616C>A
• NG_009072.2:g.180616C>A
• NM_000552.5:c.8402C>AMANE SELECT
• NP_000543.3:p.Ala2801Asp
• LRG_587t1:c.8402C>A
• LRG_587:g.180616C>A
• LRG_587p1:p.Ala2801Asp
• NC_000012.11:g.6058221G>T
• NM_000552.2:c.8402C>A

This HGVS expression did not pass validation

Protein change:

A2801D

Links:

dbSNP: rs267607369

NCBI 1000 Genomes Browser:

rs267607369

Molecular consequence:

• NM_000552.5:c.8402C>A - missense variant - [Sequence Ontology: SO:0001583]