ClinVar

NM_000431.4(MVK):c.78+177G>A

Gene:

MVK:mevalonate kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.11

Genomic location:

• Chr12: 109575077 (on Assembly GRCh38)
• Chr12: 110012882 (on Assembly GRCh37)

Preferred name:

NM_000431.4(MVK):c.78+177G>A

HGVS:

• NC_000012.12:g.109575077G>A
• NG_007096.1:g.3421C>T
• NG_007702.1:g.6383G>A
• NM_000431.4:c.78+177G>AMANE SELECT
• NM_001114185.3:c.78+177G>A
• NM_001301182.2:c.78+177G>A
• LRG_156:g.6383G>A
• NC_000012.11:g.110012882G>A
• NM_000431.1:c.78+177G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs104895343

NCBI 1000 Genomes Browser:

rs104895343

Molecular consequence:

• NM_000431.4:c.78+177G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001114185.3:c.78+177G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001301182.2:c.78+177G>A - intron variant - [Sequence Ontology: SO:0001627]