ClinVar

NM_018444.4(PDP1):c.871G>T (p.Asp291Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q22.1

Genomic location:

• Chr8: 93922930 (on Assembly GRCh38)
• Chr8: 94935158 (on Assembly GRCh37)

Preferred name:

NM_018444.4(PDP1):c.871G>T (p.Asp291Tyr)

HGVS:

• NC_000008.11:g.93922930G>T
• NG_012233.1:g.10997G>T
• NM_001161779.2:c.946G>T
• NM_001161780.2:c.946G>T
• NM_001161781.2:c.871G>T
• NM_018444.4:c.871G>TMANE SELECT
• NP_001155251.1:p.Asp316Tyr
• NP_001155252.1:p.Asp316Tyr
• NP_001155253.1:p.Asp291Tyr
• NP_060914.2:p.Asp291Tyr
• NC_000008.10:g.94935158G>T

This HGVS expression did not pass validation

Protein change:

D291Y

Molecular consequence:

• NM_001161779.2:c.946G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001161780.2:c.946G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001161781.2:c.871G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_018444.4:c.871G>T - missense variant - [Sequence Ontology: SO:0001583]