ClinVar

NM_006251.6(PRKAA1):c.1589C>T (p.Ser530Phe)

Gene:

PRKAA1:protein kinase AMP-activated catalytic subunit alpha 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p13.1

Genomic location:

• Chr5: 40762869 (on Assembly GRCh38)
• Chr5: 40762971 (on Assembly GRCh37)

Preferred name:

NM_006251.6(PRKAA1):c.1589C>T (p.Ser530Phe)

HGVS:

• NC_000005.10:g.40762869G>A
• NM_001355028.2:c.1511C>T
• NM_001355029.2:c.1157C>T
• NM_001355035.2:c.815C>T
• NM_001355036.2:c.815C>T
• NM_001355037.2:c.815C>T
• NM_006251.6:c.1589C>TMANE SELECT
• NM_206907.4:c.1634C>T
• NP_001341957.1:p.Ser504Phe
• NP_001341958.1:p.Ser386Phe
• NP_001341964.1:p.Ser272Phe
• NP_001341965.1:p.Ser272Phe
• NP_001341966.1:p.Ser272Phe
• NP_006242.5:p.Ser530Phe
• NP_996790.3:p.Ser545Phe
• NC_000005.9:g.40762971G>A
• NM_206907.3:c.1634C>T

This HGVS expression did not pass validation

Protein change:

S272F

Molecular consequence:

• NM_001355028.2:c.1511C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001355029.2:c.1157C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001355035.2:c.815C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001355036.2:c.815C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001355037.2:c.815C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006251.6:c.1589C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_206907.4:c.1634C>T - missense variant - [Sequence Ontology: SO:0001583]