ClinVar

NM_000552.5(VWF):c.6756G>A (p.Glu2252=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

• Chr12: 5991861 (on Assembly GRCh38)
• Chr12: 6101027 (on Assembly GRCh37)

Preferred name:

NM_000552.5(VWF):c.6756G>A (p.Glu2252=)

HGVS:

• NC_000012.12:g.5991861C>T
• NG_009072.1:g.137810G>A
• NG_009072.2:g.137810G>A
• NM_000552.5:c.6756G>AMANE SELECT
• NP_000543.3:p.Glu2252=
• LRG_587t1:c.6756G>A
• LRG_587:g.137810G>A
• LRG_587p1:p.Glu2252=
• NC_000012.11:g.6101027C>T
• NM_000552.3:c.6756G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs71581020

NCBI 1000 Genomes Browser:

rs71581020

Molecular consequence:

• NM_000552.5:c.6756G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2