ClinVar

NM_018444.4(PDP1):c.906C>T (p.Asp302=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q22.1

Genomic location:

• Chr8: 93922965 (on Assembly GRCh38)
• Chr8: 94935193 (on Assembly GRCh37)

Preferred name:

NM_018444.4(PDP1):c.906C>T (p.Asp302=)

Other names:

p.D361D:GAC>GAT; p.D302D:GAC>GAT

HGVS:

• NC_000008.11:g.93922965C>T
• NG_012233.1:g.11032C>T
• NM_001161779.2:c.981C>T
• NM_001161780.2:c.981C>T
• NM_001161781.2:c.906C>T
• NM_018444.4:c.906C>TMANE SELECT
• NP_001155251.1:p.Asp327=
• NP_001155252.1:p.Asp327=
• NP_001155253.1:p.Asp302=
• NP_060914.2:p.Asp302=
• NC_000008.10:g.94935193C>T
• NM_018444.3:c.906C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs138488258

NCBI 1000 Genomes Browser:

rs138488258

Molecular consequence:

• NM_001161779.2:c.981C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001161780.2:c.981C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001161781.2:c.906C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_018444.4:c.906C>T - synonymous variant - [Sequence Ontology: SO:0001819]