ClinVar

NM_000284.4(PDHA1):c.292-5C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.12

Genomic location:

• ChrX: 19351276 (on Assembly GRCh38)
• ChrX: 19369394 (on Assembly GRCh37)

Preferred name:

NM_000284.4(PDHA1):c.292-5C>T

HGVS:

• NC_000023.11:g.19351276C>T
• NG_016781.1:g.12384C>T
• NM_000284.4:c.292-5C>TMANE SELECT
• NM_001173454.2:c.406-5C>T
• NM_001173455.2:c.308C>T
• NM_001173456.2:c.292-5C>T
• NP_001166926.1:p.Thr103Ile
• NC_000023.10:g.19369394C>T
• NM_000284.3:c.292-5C>T

This HGVS expression did not pass validation

Protein change:

T103I

Links:

dbSNP: rs191666624

NCBI 1000 Genomes Browser:

rs191666624

Molecular consequence:

• NM_000284.4:c.292-5C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001173454.2:c.406-5C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001173456.2:c.292-5C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001173455.2:c.308C>T - missense variant - [Sequence Ontology: SO:0001583]