ClinVar

NM_000431.4(MVK):c.59A>C (p.His20Pro)

Gene:

MVK:mevalonate kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.11

Genomic location:

• Chr12: 109574881 (on Assembly GRCh38)
• Chr12: 110012686 (on Assembly GRCh37)

Preferred name:

NM_000431.4(MVK):c.59A>C (p.His20Pro)

HGVS:

• NC_000012.12:g.109574881A>C
• NG_007096.1:g.3617T>G
• NG_007702.1:g.6187A>C
• NM_000431.4:c.59A>CMANE SELECT
• NM_001114185.3:c.59A>C
• NM_001301182.2:c.59A>C
• NP_000422.1:p.His20Pro
• NP_001107657.1:p.His20Pro
• NP_001288111.1:p.His20Pro
• LRG_156t1:c.59A>C
• LRG_156:g.6187A>C
• LRG_156p1:p.His20Pro
• NC_000012.11:g.110012686A>C
• NM_000431.1:c.59A>C
• NM_000431.3:c.59A>C
• Q03426:p.His20Pro

This HGVS expression did not pass validation

Protein change:

H20P; HIS20PRO

Links:

UniProtKB: Q03426#VAR_004022; OMIM: 251170.0003; dbSNP: rs104895295

NCBI 1000 Genomes Browser:

rs104895295

Molecular consequence:

• NM_000431.4:c.59A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001114185.3:c.59A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001301182.2:c.59A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2