ClinVar

NM_000552.5(VWF):c.5347T>G (p.Ser1783Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

• Chr12: 6016197 (on Assembly GRCh38)
• Chr12: 6125363 (on Assembly GRCh37)

Preferred name:

NM_000552.5(VWF):c.5347T>G (p.Ser1783Ala)

HGVS:

• NC_000012.12:g.6016197A>C
• NG_009072.2:g.113474T>G
• NM_000552.5:c.5347T>GMANE SELECT
• NP_000543.3:p.Ser1783Ala
• LRG_587t1:c.5347T>G
• LRG_587:g.113474T>G
• LRG_587p1:p.Ser1783Ala
• NC_000012.11:g.6125363A>C
• NG_009072.1:g.113474T>G
• NM_000552.2:c.5347T>G
• NM_000552.4:c.5347T>G

This HGVS expression did not pass validation

Protein change:

S1783A; SER1783ALA

Links:

OMIM: 613160.0042; dbSNP: rs267607353

NCBI 1000 Genomes Browser:

rs267607353

Molecular consequence:

• NM_000552.5:c.5347T>G - missense variant - [Sequence Ontology: SO:0001583]