ClinVar

NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His)

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: 41423039 (on Assembly GRCh38)
• Chr19: 41928944 (on Assembly GRCh37)

Preferred name:

NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His)

HGVS:

• NC_000019.10:g.41423039G>A
• NG_013004.1:g.30251G>A
• NM_000709.4:c.1037G>AMANE SELECT
• NM_001164783.2:c.1034G>A
• NP_000700.1:p.Arg346His
• NP_000700.1:p.Arg346His
• NP_000700.1:p.Arg346His
• NP_001158255.1:p.Arg345His
• NC_000019.9:g.41928944G>A
• NM_000709.3:c.1037G>A

This HGVS expression did not pass validation

Protein change:

R345H

Links:

dbSNP: rs398123486

NCBI 1000 Genomes Browser:

rs398123486

Molecular consequence:

• NM_000709.4:c.1037G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164783.2:c.1034G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

3