ClinVar

NM_016203.4(PRKAG2):c.1560C>T (p.Ile520=)

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: 151564102 (on Assembly GRCh38)
• Chr7: 151261188 (on Assembly GRCh37)

Preferred name:

NM_016203.4(PRKAG2):c.1560C>T (p.Ile520=)

HGVS:

• NC_000007.14:g.151564102G>A
• NG_007486.2:g.318130C>T
• NM_001040633.2:c.1428C>T
• NM_001304527.2:c.1185C>T
• NM_001304531.2:c.837C>T
• NM_001363698.2:c.1188C>T
• NM_016203.4:c.1560C>TMANE SELECT
• NM_024429.2:c.837C>T
• NP_001035723.1:p.Ile476=
• NP_001291456.1:p.Ile395=
• NP_001291460.1:p.Ile279=
• NP_001350627.1:p.Ile396=
• NP_057287.2:p.Ile520=
• NP_077747.1:p.Ile279=
• LRG_430t1:c.1560C>T
• LRG_430:g.318130C>T
• LRG_430p1:p.Ile520=
• NC_000007.13:g.151261188G>A
• NC_000007.13:g.151261188G>A
• NG_007486.1:g.318129C>T
• NM_016203.3:c.1560C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs376762359

NCBI 1000 Genomes Browser:

rs376762359

Molecular consequence:

• NM_001040633.2:c.1428C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001304527.2:c.1185C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001304531.2:c.837C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363698.2:c.1188C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_016203.4:c.1560C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_024429.2:c.837C>T - synonymous variant - [Sequence Ontology: SO:0001819]