ClinVar

NM_018444.4(PDP1):c.1589T>C (p.Val530Ala)

Gene:

PDP1:pyruvate dehydrogenase phosphatase catalytic subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q22.1

Genomic location:

• Chr8: 93923648 (on Assembly GRCh38)
• Chr8: 94935876 (on Assembly GRCh37)

Preferred name:

NM_018444.4(PDP1):c.1589T>C (p.Val530Ala)

HGVS:

• NC_000008.11:g.93923648T>C
• NG_012233.1:g.11715T>C
• NM_001161779.2:c.1664T>C
• NM_001161780.2:c.1664T>C
• NM_001161781.2:c.1589T>C
• NM_018444.4:c.1589T>CMANE SELECT
• NP_001155251.1:p.Val555Ala
• NP_001155252.1:p.Val555Ala
• NP_001155253.1:p.Val530Ala
• NP_060914.2:p.Val530Ala
• NC_000008.10:g.94935876T>C
• NM_018444.3:c.1589T>C

This HGVS expression did not pass validation

Protein change:

V530A

Links:

dbSNP: rs1388317775

NCBI 1000 Genomes Browser:

rs1388317775

Molecular consequence:

• NM_001161779.2:c.1664T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001161780.2:c.1664T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001161781.2:c.1589T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_018444.4:c.1589T>C - missense variant - [Sequence Ontology: SO:0001583]