ClinVar

NM_000431.4(MVK):c.441C>T (p.Ala147=)

Gene:

MVK:mevalonate kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.11

Genomic location:

• Chr12: 109581464 (on Assembly GRCh38)
• Chr12: 110019269 (on Assembly GRCh37)

Preferred name:

NM_000431.4(MVK):c.441C>T (p.Ala147=)

Other names:

p.A147A:GCC>GCT

HGVS:

• NC_000012.12:g.109581464C>T
• NG_007702.1:g.12770C>T
• NM_000431.4:c.441C>TMANE SELECT
• NM_001114185.3:c.441C>T
• NM_001301182.2:c.371+1518C>T
• NP_000422.1:p.Ala147=
• NP_001107657.1:p.Ala147=
• LRG_156t1:c.441C>T
• LRG_156:g.12770C>T
• NC_000012.11:g.110019269C>T
• NM_000431.2:c.441C>T
• NM_000431.3:c.441C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs138342076

NCBI 1000 Genomes Browser:

rs138342076

Molecular consequence:

• NM_001301182.2:c.371+1518C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000431.4:c.441C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001114185.3:c.441C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

8