ClinVar

NM_183050.4(BCKDHB):c.36C>T (p.Leu12=)

Gene:

BCKDHB:branched chain keto acid dehydrogenase E1 subunit beta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q14.1

Genomic location:

• Chr6: 80106729 (on Assembly GRCh38)
• Chr6: 80816446 (on Assembly GRCh37)

Preferred name:

NM_183050.4(BCKDHB):c.36C>T (p.Leu12=)

HGVS:

• NC_000006.12:g.80106729C>T
• NG_009775.2:g.5103C>T
• NM_000056.5:c.36C>T
• NM_001318975.1:c.-15+46C>T
• NM_183050.4:c.36C>TMANE SELECT
• NP_000047.1:p.Leu12=
• NP_898871.1:p.Leu12=
• NC_000006.11:g.80816446C>T
• NM_183050.2:c.36C>T
• NR_134945.2:n.59C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1464497822

NCBI 1000 Genomes Browser:

rs1464497822

Molecular consequence:

• NM_001318975.1:c.-15+46C>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_134945.2:n.59C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000056.5:c.36C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_183050.4:c.36C>T - synonymous variant - [Sequence Ontology: SO:0001819]