ClinVar

NM_000709.4(BCKDHA):c.905A>C (p.Asp302Ala)

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: 41422680 (on Assembly GRCh38)
• Chr19: 41928585 (on Assembly GRCh37)

Preferred name:

NM_000709.4(BCKDHA):c.905A>C (p.Asp302Ala)

HGVS:

• NC_000019.10:g.41422680A>C
• NG_013004.1:g.29892A>C
• NM_000709.4:c.905A>CMANE SELECT
• NM_001164783.2:c.902A>C
• NP_000700.1:p.Asp302Ala
• NP_000700.1:p.Asp302Ala
• NP_001158255.1:p.Asp301Ala
• NC_000019.9:g.41928585A>C
• NM_000709.3:c.905A>C

This HGVS expression did not pass validation

Protein change:

D301A

Links:

dbSNP: rs398123509

NCBI 1000 Genomes Browser:

rs398123509

Molecular consequence:

• NM_000709.4:c.905A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164783.2:c.902A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

6