ClinVar

NM_000552.5(VWF):c.5380A>G (p.Lys1794Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

• Chr12: 6016164 (on Assembly GRCh38)
• Chr12: 6125330 (on Assembly GRCh37)

Preferred name:

NM_000552.5(VWF):c.5380A>G (p.Lys1794Glu)

Other names:

p.K1794E

HGVS:

• NC_000012.12:g.6016164T>C
• NG_009072.1:g.113507A>G
• NG_009072.2:g.113507A>G
• NM_000552.5:c.5380A>GMANE SELECT
• NP_000543.3:p.Lys1794Glu
• LRG_587t1:c.5380A>G
• LRG_587:g.113507A>G
• LRG_587p1:p.Lys1794Glu
• NC_000012.11:g.6125330T>C
• NM_000552.2:c.5380A>G
• NM_000552.3:c.5380A>G

This HGVS expression did not pass validation

Protein change:

K1794E

Links:

dbSNP: rs267607355

NCBI 1000 Genomes Browser:

rs267607355

Molecular consequence:

• NM_000552.5:c.5380A>G - missense variant - [Sequence Ontology: SO:0001583]