ClinVar

NM_016203.4(PRKAG2):c.1687C>T (p.Gln563Ter)

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: 151557224 (on Assembly GRCh38)
• Chr7: 151254310 (on Assembly GRCh37)

Preferred name:

NM_016203.4(PRKAG2):c.1687C>T (p.Gln563Ter)

HGVS:

• NC_000007.14:g.151557224G>A
• NG_007486.2:g.325008C>T
• NM_001040633.2:c.1555C>T
• NM_001304527.2:c.1312C>T
• NM_001304531.2:c.964C>T
• NM_001363698.2:c.1315C>T
• NM_016203.4:c.1687C>TMANE SELECT
• NM_024429.2:c.964C>T
• NP_001035723.1:p.Gln519Ter
• NP_001291456.1:p.Gln438Ter
• NP_001291460.1:p.Gln322Ter
• NP_001350627.1:p.Gln439Ter
• NP_057287.2:p.Gln563Ter
• NP_077747.1:p.Gln322Ter
• LRG_430t1:c.1687C>T
• LRG_430:g.325008C>T
• LRG_430p1:p.Gln563Ter
• NC_000007.13:g.151254310G>A
• NG_007486.1:g.325007C>T
• NM_016203.3:c.1687C>T
• c.1687C>T
• p.Gln563X

This HGVS expression did not pass validation

Protein change:

Q322*

Links:

dbSNP: rs397517267

NCBI 1000 Genomes Browser:

rs397517267

Molecular consequence:

• NM_001040633.2:c.1555C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001304527.2:c.1312C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001304531.2:c.964C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001363698.2:c.1315C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_016203.4:c.1687C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_024429.2:c.964C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

2