ClinVar

NM_000284.4(PDHA1):c.661A>G (p.Ile221Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.12

Genomic location:

• ChrX: 19355406 (on Assembly GRCh38)
• ChrX: 19373524 (on Assembly GRCh37)

Preferred name:

NM_000284.4(PDHA1):c.661A>G (p.Ile221Val)

HGVS:

• NC_000023.11:g.19355406A>G
• NG_016781.1:g.16514A>G
• NM_000284.4:c.661A>GMANE SELECT
• NM_001173454.2:c.775A>G
• NM_001173455.2:c.682A>G
• NM_001173456.2:c.568A>G
• NP_000275.1:p.Ile221Val
• NP_001166925.1:p.Ile259Val
• NP_001166926.1:p.Ile228Val
• NP_001166927.1:p.Ile190Val
• NC_000023.10:g.19373524A>G
• NM_000284.3:c.661A>G

This HGVS expression did not pass validation

Protein change:

I190V

Links:

dbSNP: rs1410654779

NCBI 1000 Genomes Browser:

rs1410654779

Molecular consequence:

• NM_000284.4:c.661A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001173454.2:c.775A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001173455.2:c.682A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001173456.2:c.568A>G - missense variant - [Sequence Ontology: SO:0001583]