ClinVar

NM_016203.4(PRKAG2):c.1107-7C>T

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: 151568849 (on Assembly GRCh38)
• Chr7: 151265935 (on Assembly GRCh37)

Preferred name:

NM_016203.4(PRKAG2):c.1107-7C>T

HGVS:

• NC_000007.14:g.151568849G>A
• NG_007486.2:g.313383C>T
• NM_001040633.2:c.975-7C>T
• NM_001304527.2:c.732-7C>T
• NM_001304531.2:c.384-7C>T
• NM_001363698.2:c.735-7C>T
• NM_016203.4:c.1107-7C>TMANE SELECT
• NM_024429.2:c.384-7C>T
• LRG_430t1:c.1107-7C>T
• LRG_430:g.313383C>T
• NC_000007.13:g.151265935G>A
• NG_007486.1:g.313382C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs775881497

NCBI 1000 Genomes Browser:

rs775881497

Molecular consequence:

• NM_001040633.2:c.975-7C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001304527.2:c.732-7C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001304531.2:c.384-7C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363698.2:c.735-7C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_016203.4:c.1107-7C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_024429.2:c.384-7C>T - intron variant - [Sequence Ontology: SO:0001627]