ClinVar

NM_002733.5(PRKAG1):c.40G>A (p.Glu14Lys)

Genes:

DDN-AS1:DDN and PRKAG1 antisense RNA 1 [Gene - HGNC]
PRKAG1:protein kinase AMP-activated non-catalytic subunit gamma 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.12

Genomic location:

• Chr12: 49013080 (on Assembly GRCh38)
• Chr12: 49406863 (on Assembly GRCh37)

Preferred name:

NM_002733.5(PRKAG1):c.40G>A (p.Glu14Lys)

HGVS:

• NC_000012.12:g.49013080C>T
• NM_001206709.2:c.40G>A
• NM_001206710.2:c.-57G>A
• NM_002733.5:c.40G>AMANE SELECT
• NP_001193638.1:p.Glu14Lys
• NP_002724.1:p.Glu14Lys
• NC_000012.11:g.49406863C>T
• NM_001206709.1:c.40G>A

This HGVS expression did not pass validation

Protein change:

E14K

Molecular consequence:

• NM_001206710.2:c.-57G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001206709.2:c.40G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002733.5:c.40G>A - missense variant - [Sequence Ontology: SO:0001583]