ClinVar

NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.12

Genomic location:

• ChrX: 19359612 (on Assembly GRCh38)
• ChrX: 19377730 (on Assembly GRCh37)

Preferred name:

NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys)

Other names:

p.R378C:CGT>TGT; NM_000284.3(PDHA1):c.1132C>T; p.Arg378Cys

HGVS:

• NC_000023.11:g.19359612C>T
• NG_016781.1:g.20720C>T
• NG_021184.1:g.160650G>A
• NM_000284.4:c.1132C>TMANE SELECT
• NM_001173454.2:c.1246C>T
• NM_001173455.2:c.1153C>T
• NM_001173456.2:c.1039C>T
• NP_000275.1:p.Arg378Cys
• NP_001166925.1:p.Arg416Cys
• NP_001166926.1:p.Arg385Cys
• NP_001166927.1:p.Arg347Cys
• NC_000023.10:g.19377730C>T
• NM_000284.3:c.1132C>T
• NM_001173454.1:c.1246C>T
• p.(Arg378Cys)

This HGVS expression did not pass validation

Protein change:

R347C

Links:

dbSNP: rs863224147

NCBI 1000 Genomes Browser:

rs863224147

Molecular consequence:

• NM_000284.4:c.1132C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001173454.2:c.1246C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001173455.2:c.1153C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001173456.2:c.1039C>T - missense variant - [Sequence Ontology: SO:0001583]