ClinVar

NM_002734.5(PRKAR1A):c.879C>T (p.Phe293=)

Gene:

PRKAR1A:protein kinase cAMP-dependent type I regulatory subunit alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q24.2

Genomic location:

• Chr17: 68528979 (on Assembly GRCh38)
• Chr17: 66525120 (on Assembly GRCh37)

Preferred name:

NM_002734.5(PRKAR1A):c.879C>T (p.Phe293=)

HGVS:

• NC_000017.11:g.68528979C>T
• NG_007093.3:g.120357C>T
• NM_001276289.2:c.879C>T
• NM_001276290.1:c.879C>T
• NM_001278433.2:c.879C>T
• NM_001369389.1:c.879C>T
• NM_001369390.1:c.879C>T
• NM_002734.5:c.879C>TMANE SELECT
• NM_212471.3:c.879C>T
• NM_212472.2:c.879C>T
• NP_001263218.1:p.Phe293=
• NP_001263219.1:p.Phe293=
• NP_001265362.1:p.Phe293=
• NP_001356318.1:p.Phe293=
• NP_001356319.1:p.Phe293=
• NP_002725.1:p.Phe293=
• NP_997636.1:p.Phe293=
• NP_997637.1:p.Phe293=
• LRG_514t2:c.879C>T
• LRG_514:g.120357C>T
• LRG_514p2:p.Phe293=
• NC_000017.10:g.66525120C>T
• NM_002734.3:c.879C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2143368358

NCBI 1000 Genomes Browser:

rs2143368358

Molecular consequence:

• NM_001276289.2:c.879C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001276290.1:c.879C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001278433.2:c.879C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369389.1:c.879C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369390.1:c.879C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002734.5:c.879C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_212471.3:c.879C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_212472.2:c.879C>T - synonymous variant - [Sequence Ontology: SO:0001819]