ClinVar

NM_000284.4(PDHA1):c.756G>A (p.Leu252=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.12

Genomic location:

• ChrX: 19355501 (on Assembly GRCh38)
• ChrX: 19373619 (on Assembly GRCh37)

Preferred name:

NM_000284.4(PDHA1):c.756G>A (p.Leu252=)

HGVS:

• NC_000023.11:g.19355501G>A
• NG_016781.1:g.16609G>A
• NM_000284.4:c.756G>AMANE SELECT
• NM_001173454.2:c.870G>A
• NM_001173455.2:c.777G>A
• NM_001173456.2:c.663G>A
• NP_000275.1:p.Leu252=
• NP_001166925.1:p.Leu290=
• NP_001166926.1:p.Leu259=
• NP_001166927.1:p.Leu221=
• NC_000023.10:g.19373619G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs768600287

NCBI 1000 Genomes Browser:

rs768600287

Molecular consequence:

• NM_000284.4:c.756G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001173454.2:c.870G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001173455.2:c.777G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001173456.2:c.663G>A - synonymous variant - [Sequence Ontology: SO:0001819]