ClinVar

NM_002730.4(PRKACA):c.165C>T (p.Phe55=)

Gene:

PRKACA:protein kinase cAMP-activated catalytic subunit alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.12

Genomic location:

• Chr19: 14106832 (on Assembly GRCh38)
• Chr19: 14217644 (on Assembly GRCh37)

Preferred name:

NM_002730.4(PRKACA):c.165C>T (p.Phe55=)

HGVS:

• NC_000019.10:g.14106832G>A
• NG_029699.1:g.15916C>T
• NM_001304349.2:c.393C>T
• NM_002730.4:c.165C>TMANE SELECT
• NM_207518.3:c.141C>T
• NP_001291278.1:p.Phe131=
• NP_002721.1:p.Phe55=
• NP_997401.1:p.Phe47=
• NC_000019.9:g.14217644G>A
• NM_002730.3:c.165C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs776568028

NCBI 1000 Genomes Browser:

rs776568028

Molecular consequence:

• NM_001304349.2:c.393C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002730.4:c.165C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_207518.3:c.141C>T - synonymous variant - [Sequence Ontology: SO:0001819]