ClinVar

NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys)

Gene:

BCKDHA:branched chain keto acid dehydrogenase E1 subunit alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 41423038 (on Assembly GRCh38)
• Chr19: 41928943 (on Assembly GRCh37)

Preferred name:

NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys)

HGVS:

• NC_000019.10:g.41423038C>T
• NG_013004.1:g.30250C>T
• NM_000709.4:c.1036C>TMANE SELECT
• NM_001164783.2:c.1033C>T
• NP_000700.1:p.Arg346Cys
• NP_000700.1:p.Arg346Cys
• NP_001158255.1:p.Arg345Cys
• NC_000019.9:g.41928943C>T
• NM_000709.3:c.1036C>T
• P12694:p.Arg346Cys

This HGVS expression did not pass validation

Protein change:

R345C

Links:

UniProtKB: P12694#VAR_069750; dbSNP: rs182923857

NCBI 1000 Genomes Browser:

rs182923857

Molecular consequence:

• NM_000709.4:c.1036C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164783.2:c.1033C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2