ClinVar

NM_000552.5(VWF):c.3258C>T (p.Tyr1086=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

• Chr12: 6023752 (on Assembly GRCh38)
• Chr12: 6132918 (on Assembly GRCh37)

Preferred name:

NM_000552.5(VWF):c.3258C>T (p.Tyr1086=)

HGVS:

• NC_000012.12:g.6023752G>A
• NG_009072.2:g.105919C>T
• NM_000552.5:c.3258C>TMANE SELECT
• NP_000543.2:p.Tyr1086=
• NP_000543.3:p.Tyr1086=
• LRG_587t1:c.3258C>T
• LRG_587:g.105919C>T
• LRG_587p1:p.Tyr1086=
• NC_000012.11:g.6132918G>A
• NG_009072.1:g.105919C>T
• NM_000552.3:c.3258C>T
• NM_000552.4:c.3258C>T
• p.Tyr1086Tyr

This HGVS expression did not pass validation

Links:

dbSNP: rs112634786

NCBI 1000 Genomes Browser:

rs112634786

Molecular consequence:

• NM_000552.5:c.3258C>T - synonymous variant - [Sequence Ontology: SO:0001819]