ClinVar

NM_002734.5(PRKAR1A):c.769+15G>T

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: 68527915 (on Assembly GRCh38)
• Chr17: 66524056 (on Assembly GRCh37)

Preferred name:

NM_002734.5(PRKAR1A):c.769+15G>T

HGVS:

• NC_000017.11:g.68527915G>T
• NG_007093.3:g.119293G>T
• NM_001276289.2:c.769+15G>T
• NM_001276290.1:c.769+15G>T
• NM_001278433.2:c.769+15G>T
• NM_001369389.1:c.769+15G>T
• NM_001369390.1:c.769+15G>T
• NM_002734.5:c.769+15G>TMANE SELECT
• NM_212471.3:c.769+15G>T
• NM_212472.2:c.769+15G>T
• LRG_514t2:c.769+15G>T
• LRG_514:g.119293G>T
• NC_000017.10:g.66524056G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1600490119

NCBI 1000 Genomes Browser:

rs1600490119

Molecular consequence:

• NM_001276289.2:c.769+15G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001276290.1:c.769+15G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001278433.2:c.769+15G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001369389.1:c.769+15G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001369390.1:c.769+15G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_002734.5:c.769+15G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_212471.3:c.769+15G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_212472.2:c.769+15G>T - intron variant - [Sequence Ontology: SO:0001627]