ClinVar

NM_052845.4(MMAB):c.116G>A (p.Gly39Asp)

Genes:

MMAB:metabolism of cobalamin associated B [Gene - OMIM - HGNC]
MVK:mevalonate kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.11

Genomic location:

• Chr12: 109573365 (on Assembly GRCh38)
• Chr12: 110011170 (on Assembly GRCh37)

Preferred name:

NM_052845.4(MMAB):c.116G>A (p.Gly39Asp)

HGVS:

• NC_000012.12:g.109573365C>T
• NG_007096.1:g.5133G>A
• NG_007702.1:g.4671C>T
• NM_052845.4:c.116G>AMANE SELECT
• NP_443077.1:p.Gly39Asp
• LRG_156:g.4671C>T
• NC_000012.11:g.110011170C>T
• NR_038118.2:n.140G>A

This HGVS expression did not pass validation

Protein change:

G39D

Links:

dbSNP: rs1466525448

NCBI 1000 Genomes Browser:

rs1466525448

Molecular consequence:

• NM_052845.4:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_038118.2:n.140G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]