ClinVar

NM_016203.4(PRKAG2):c.590C>T (p.Pro197Leu)

Gene:

PRKAG2:protein kinase AMP-activated non-catalytic subunit gamma 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.1

Genomic location:

• Chr7: 151675514 (on Assembly GRCh38)
• Chr7: 151372600 (on Assembly GRCh37)

Preferred name:

NM_016203.4(PRKAG2):c.590C>T (p.Pro197Leu)

HGVS:

• NC_000007.14:g.151675514G>A
• NG_007486.2:g.206718C>T
• NM_001040633.2:c.458C>T
• NM_001304527.2:c.218C>T
• NM_001363698.2:c.218C>T
• NM_016203.4:c.590C>TMANE SELECT
• NP_001035723.1:p.Pro153Leu
• NP_001291456.1:p.Pro73Leu
• NP_001350627.1:p.Pro73Leu
• NP_057287.2:p.Pro197Leu
• LRG_430t1:c.590C>T
• LRG_430:g.206718C>T
• LRG_430p1:p.Pro197Leu
• NC_000007.13:g.151372600G>A
• NG_007486.1:g.206717C>T
• NM_016203.3:c.590C>T

This HGVS expression did not pass validation

Protein change:

P153L

Links:

dbSNP: rs368637364

NCBI 1000 Genomes Browser:

rs368637364

Molecular consequence:

• NM_001040633.2:c.458C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001304527.2:c.218C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363698.2:c.218C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_016203.4:c.590C>T - missense variant - [Sequence Ontology: SO:0001583]