ClinVar

NM_000284.4(PDHA1):c.139G>A (p.Glu47Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.12

Genomic location:

• ChrX: 19349958 (on Assembly GRCh38)
• ChrX: 19368076 (on Assembly GRCh37)

Preferred name:

NM_000284.4(PDHA1):c.139G>A (p.Glu47Lys)

HGVS:

• NC_000023.11:g.19349958G>A
• NG_016781.1:g.11066G>A
• NM_000284.4:c.139G>AMANE SELECT
• NM_001173454.2:c.253G>A
• NM_001173455.2:c.139G>A
• NM_001173456.2:c.139G>A
• NP_000275.1:p.Glu47Lys
• NP_001166925.1:p.Glu85Lys
• NP_001166926.1:p.Glu47Lys
• NP_001166927.1:p.Glu47Lys
• NC_000023.10:g.19368076G>A

This HGVS expression did not pass validation

Protein change:

E47K

Links:

dbSNP: rs745312079

NCBI 1000 Genomes Browser:

rs745312079

Molecular consequence:

• NM_000284.4:c.139G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001173454.2:c.253G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001173455.2:c.139G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001173456.2:c.139G>A - missense variant - [Sequence Ontology: SO:0001583]