ClinVar

NM_000709.4(BCKDHA):c.817A>G (p.Thr273Ala)

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: 41422334 (on Assembly GRCh38)
• Chr19: 41928239 (on Assembly GRCh37)

Preferred name:

NM_000709.4(BCKDHA):c.817A>G (p.Thr273Ala)

HGVS:

• NC_000019.10:g.41422334A>G
• NG_013004.1:g.29546A>G
• NM_000709.4:c.817A>GMANE SELECT
• NM_001164783.2:c.817A>G
• NP_000700.1:p.Thr273Ala
• NP_000700.1:p.Thr273Ala
• NP_001158255.1:p.Thr273Ala
• NC_000019.9:g.41928239A>G
• NM_000709.3:c.817A>G

This HGVS expression did not pass validation

Protein change:

T273A

Links:

dbSNP: rs398123506

NCBI 1000 Genomes Browser:

rs398123506

Molecular consequence:

• NM_000709.4:c.817A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164783.2:c.817A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1