ClinVar

NM_000284.4(PDHA1):c.832-1G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.12

Genomic location:

• ChrX: 19357651 (on Assembly GRCh38)
• ChrX: 19375769 (on Assembly GRCh37)

Preferred name:

NM_000284.4(PDHA1):c.832-1G>A

HGVS:

• NC_000023.11:g.19357651G>A
• NG_016781.1:g.18759G>A
• NM_000284.4:c.832-1G>AMANE SELECT
• NM_001173454.2:c.946-1G>A
• NM_001173455.2:c.853-1G>A
• NM_001173456.2:c.739-1G>A
• NC_000023.10:g.19375769G>A
• NM_000284.3:c.832-1G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1555934843

NCBI 1000 Genomes Browser:

rs1555934843

Molecular consequence:

• NM_000284.4:c.832-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001173454.2:c.946-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001173455.2:c.853-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001173456.2:c.739-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Observations:

1