ClinVar

NM_000284.4(PDHA1):c.506C>T (p.Ala169Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.12

Genomic location:

• ChrX: 19353169 (on Assembly GRCh38)
• ChrX: 19371287 (on Assembly GRCh37)

Preferred name:

NM_000284.4(PDHA1):c.506C>T (p.Ala169Val)

Other names:

p.A169V:GCG>GTG

HGVS:

• NC_000023.11:g.19353169C>T
• NG_016781.1:g.14277C>T
• NM_000284.4:c.506C>TMANE SELECT
• NM_001173454.2:c.620C>T
• NM_001173455.2:c.527C>T
• NM_001173456.2:c.506C>T
• NP_000275.1:p.Ala169Val
• NP_001166925.1:p.Ala207Val
• NP_001166926.1:p.Ala176Val
• NP_001166927.1:p.Ala169Val
• NP_001166927.1:p.Ala169Val
• NC_000023.10:g.19371287C>T
• NC_000023.10:g.19371287C>T
• NM_000284.3:c.506C>T
• NM_000284.4(PDHA1):c.506C>TMANE SELECT
• NM_001173456.1:c.506C>T
• p.Ala169Val

This HGVS expression did not pass validation

Protein change:

A169V

Links:

dbSNP: rs863224150

NCBI 1000 Genomes Browser:

rs863224150

Molecular consequence:

• NM_000284.4:c.506C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001173454.2:c.620C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001173455.2:c.527C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001173456.2:c.506C>T - missense variant - [Sequence Ontology: SO:0001583]