ClinVar

NM_000431.4(MVK):c.794T>C (p.Leu265Pro)

Gene:

MVK:mevalonate kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.11

Genomic location:

• Chr12: 109591266 (on Assembly GRCh38)
• Chr12: 110029071 (on Assembly GRCh37)

Preferred name:

NM_000431.4(MVK):c.794T>C (p.Leu265Pro)

HGVS:

• NC_000012.12:g.109591266T>C
• NG_007702.1:g.22572T>C
• NM_000431.4:c.794T>CMANE SELECT
• NM_001114185.3:c.794T>C
• NM_001301182.2:c.638T>C
• NP_000422.1:p.Leu265Pro
• NP_001107657.1:p.Leu265Pro
• NP_001288111.1:p.Leu213Pro
• LRG_156:g.22572T>C
• NC_000012.11:g.110029071T>C
• NM_000431.1:c.794T>C
• Q03426:p.Leu265Pro

This HGVS expression did not pass validation

Protein change:

L213P

Links:

UniProtKB: Q03426#VAR_010966; dbSNP: rs104895316

NCBI 1000 Genomes Browser:

rs104895316

Molecular consequence:

• NM_000431.4:c.794T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001114185.3:c.794T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001301182.2:c.638T>C - missense variant - [Sequence Ontology: SO:0001583]