ClinVar

NM_024006.6(VKORC1):c.106G>T (p.Asp36Tyr)

Gene:

VKORC1:vitamin K epoxide reductase complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p11.2

Genomic location:

• Chr16: 31094624 (on Assembly GRCh38)
• Chr16: 31105945 (on Assembly GRCh37)

Preferred name:

NM_024006.6(VKORC1):c.106G>T (p.Asp36Tyr)

HGVS:

• NC_000016.10:g.31094624C>A
• NG_011564.1:g.5332G>T
• NM_001311311.2:c.106G>T
• NM_024006.6:c.106G>TMANE SELECT
• NM_206824.3:c.106G>T
• NP_001298240.1:p.Asp36Tyr
• NP_076869.1:p.Asp36Tyr
• NP_996560.1:p.Asp36Tyr
• LRG_582t1:c.106G>T
• LRG_582:g.5332G>T
• LRG_582p1:p.Asp36Tyr
• NC_000016.9:g.31105945C>A
• NM_024006.5:c.106G>T
• Q9BQB6:p.Asp36Tyr

This HGVS expression did not pass validation

Protein change:

D36Y; ASP36TYR

Links:

PharmGKB Clinical Annotation: 1183703748; UniProtKB: Q9BQB6#VAR_065787; OMIM: 608547.0007; dbSNP: rs61742245

NCBI 1000 Genomes Browser:

rs61742245

Molecular consequence:

• NM_001311311.2:c.106G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_024006.6:c.106G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_206824.3:c.106G>T - missense variant - [Sequence Ontology: SO:0001583]