ClinVar

NM_000284.4(PDHA1):c.867C>T (p.Tyr289=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.12

Genomic location:

• ChrX: 19357687 (on Assembly GRCh38)
• ChrX: 19375805 (on Assembly GRCh37)

Preferred name:

NM_000284.4(PDHA1):c.867C>T (p.Tyr289=)

HGVS:

• NC_000023.11:g.19357687C>T
• NG_016781.1:g.18795C>T
• NM_000284.4:c.867C>TMANE SELECT
• NM_001173454.1:c.981C>T
• NM_001173454.2:c.981C>T
• NM_001173455.2:c.888C>T
• NM_001173456.2:c.774C>T
• NP_000275.1:p.Tyr289=
• NP_001166925.1:p.Tyr327=
• NP_001166926.1:p.Tyr296=
• NP_001166927.1:p.Tyr258=
• NC_000023.10:g.19375805C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1418512491

NCBI 1000 Genomes Browser:

rs1418512491

Molecular consequence:

• NM_000284.4:c.867C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001173454.2:c.981C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001173455.2:c.888C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001173456.2:c.774C>T - synonymous variant - [Sequence Ontology: SO:0001819]