ClinVar

NM_000284.4(PDHA1):c.616G>C (p.Glu206Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.12

Genomic location:

• ChrX: 19355361 (on Assembly GRCh38)
• ChrX: 19373479 (on Assembly GRCh37)

Preferred name:

NM_000284.4(PDHA1):c.616G>C (p.Glu206Gln)

HGVS:

• NC_000023.11:g.19355361G>C
• NG_016781.1:g.16469G>C
• NM_000284.4:c.616G>CMANE SELECT
• NM_001173454.2:c.730G>C
• NM_001173455.2:c.637G>C
• NM_001173456.2:c.523G>C
• NP_000275.1:p.Glu206Gln
• NP_001166925.1:p.Glu244Gln
• NP_001166926.1:p.Glu213Gln
• NP_001166927.1:p.Glu175Gln
• NC_000023.10:g.19373479G>C
• NM_000284.3:c.616G>C

This HGVS expression did not pass validation

Protein change:

E175Q

Links:

dbSNP: rs1555934336

NCBI 1000 Genomes Browser:

rs1555934336

Molecular consequence:

• NM_000284.4:c.616G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001173454.2:c.730G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001173455.2:c.637G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001173456.2:c.523G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1