ClinVar

NM_000552.5(VWF):c.8096A>G (p.His2699Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

• Chr12: 5952410 (on Assembly GRCh38)
• Chr12: 6061576 (on Assembly GRCh37)

Preferred name:

NM_000552.5(VWF):c.8096A>G (p.His2699Arg)

HGVS:

• NC_000012.12:g.5952410T>C
• NG_009072.2:g.177261A>G
• NM_000552.5:c.8096A>GMANE SELECT
• NP_000543.3:p.His2699Arg
• LRG_587t1:c.8096A>G
• LRG_587:g.177261A>G
• LRG_587p1:p.His2699Arg
• NC_000012.11:g.6061576T>C
• NG_009072.1:g.177261A>G
• NM_000552.3:c.8096A>G

This HGVS expression did not pass validation

Protein change:

H2699R

Links:

dbSNP: rs886049736

NCBI 1000 Genomes Browser:

rs886049736

Molecular consequence:

• NM_000552.5:c.8096A>G - missense variant - [Sequence Ontology: SO:0001583]