ClinVar

NM_000284.4(PDHA1):c.749C>T (p.Pro250Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.12

Genomic location:

• ChrX: 19355494 (on Assembly GRCh38)
• ChrX: 19373612 (on Assembly GRCh37)

Preferred name:

NM_000284.4(PDHA1):c.749C>T (p.Pro250Leu)

HGVS:

• NC_000023.11:g.19355494C>T
• NG_016781.1:g.16602C>T
• NM_000284.4:c.749C>TMANE SELECT
• NM_001173454.2:c.863C>T
• NM_001173455.2:c.770C>T
• NM_001173456.2:c.656C>T
• NP_000275.1:p.Pro250Leu
• NP_001166925.1:p.Pro288Leu
• NP_001166925.1:p.Pro288Leu
• NP_001166926.1:p.Pro257Leu
• NP_001166927.1:p.Pro219Leu
• NC_000023.10:g.19373612C>T
• NM_001173454.1:c.863C>T

This HGVS expression did not pass validation

Protein change:

P219L

Links:

dbSNP: rs1602227679

NCBI 1000 Genomes Browser:

rs1602227679

Molecular consequence:

• NM_000284.4:c.749C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001173454.2:c.863C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001173455.2:c.770C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001173456.2:c.656C>T - missense variant - [Sequence Ontology: SO:0001583]