ClinVar

NM_000284.4(PDHA1):c.871G>A (p.Gly291Arg)

Gene:

PDHA1:pyruvate dehydrogenase E1 subunit alpha 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.12

Genomic location:

• ChrX: 19357691 (on Assembly GRCh38)
• ChrX: 19375809 (on Assembly GRCh37)

Preferred name:

NM_000284.4(PDHA1):c.871G>A (p.Gly291Arg)

HGVS:

• NC_000023.11:g.19357691G>A
• NG_016781.1:g.18799G>A
• NM_000284.4:c.871G>AMANE SELECT
• NM_001173454.2:c.985G>A
• NM_001173455.2:c.892G>A
• NM_001173456.2:c.778G>A
• NP_000275.1:p.Gly291Arg
• NP_001166925.1:p.Gly329Arg
• NP_001166926.1:p.Gly298Arg
• NP_001166927.1:p.Gly260Arg
• NC_000023.10:g.19375809G>A
• NM_000284.3:c.871G>A

This HGVS expression did not pass validation

Protein change:

G260R

Links:

dbSNP: rs2147184517

NCBI 1000 Genomes Browser:

rs2147184517

Molecular consequence:

• NM_000284.4:c.871G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001173454.2:c.985G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001173455.2:c.892G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001173456.2:c.778G>A - missense variant - [Sequence Ontology: SO:0001583]