ClinVar

NM_000284.4(PDHA1):c.861C>T (p.Tyr287=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.12

Genomic location:

• ChrX: 19357681 (on Assembly GRCh38)
• ChrX: 19375799 (on Assembly GRCh37)

Preferred name:

NM_000284.4(PDHA1):c.861C>T (p.Tyr287=)

HGVS:

• NC_000023.11:g.19357681C>T
• NG_016781.1:g.18789C>T
• NM_000284.4:c.861C>TMANE SELECT
• NM_001173454.2:c.975C>T
• NM_001173455.2:c.882C>T
• NM_001173456.2:c.768C>T
• NP_000275.1:p.Tyr287=
• NP_001166925.1:p.Tyr325=
• NP_001166926.1:p.Tyr294=
• NP_001166927.1:p.Tyr256=
• NC_000023.10:g.19375799C>T
• NM_000284.3:c.861C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1057521179

NCBI 1000 Genomes Browser:

rs1057521179

Molecular consequence:

• NM_000284.4:c.861C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001173454.2:c.975C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001173455.2:c.882C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001173456.2:c.768C>T - synonymous variant - [Sequence Ontology: SO:0001819]