ClinVar

NM_000431.4(MVK):c.60T>A (p.His20Gln)

Gene:

MVK:mevalonate kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.11

Genomic location:

• Chr12: 109574882 (on Assembly GRCh38)
• Chr12: 110012687 (on Assembly GRCh37)

Preferred name:

NM_000431.4(MVK):c.60T>A (p.His20Gln)

HGVS:

• NC_000012.12:g.109574882T>A
• NG_007096.1:g.3616A>T
• NG_007702.1:g.6188T>A
• NM_000431.4:c.60T>AMANE SELECT
• NM_001114185.3:c.60T>A
• NM_001301182.2:c.60T>A
• NP_000422.1:p.His20Gln
• NP_001107657.1:p.His20Gln
• NP_001288111.1:p.His20Gln
• LRG_156:g.6188T>A
• NC_000012.11:g.110012687T>A
• NM_000431.1:c.60T>A
• NM_000431.3:c.60T>A
• Q03426:p.His20Gln

This HGVS expression did not pass validation

Protein change:

H20Q

Links:

UniProtKB: Q03426#VAR_029519; dbSNP: rs104895335

NCBI 1000 Genomes Browser:

rs104895335

Molecular consequence:

• NM_000431.4:c.60T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001114185.3:c.60T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001301182.2:c.60T>A - missense variant - [Sequence Ontology: SO:0001583]