ClinVar

NM_183050.4(BCKDHB):c.63G>T (p.Gly21=)

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: 80106756 (on Assembly GRCh38)
• Chr6: 80816473 (on Assembly GRCh37)

Preferred name:

NM_183050.4(BCKDHB):c.63G>T (p.Gly21=)

HGVS:

• NC_000006.12:g.80106756G>T
• NG_009775.2:g.5130G>T
• NM_000056.5:c.63G>T
• NM_001318975.1:c.-15+73G>T
• NM_183050.4:c.63G>TMANE SELECT
• NP_000047.1:p.Gly21=
• NP_898871.1:p.Gly21=
• NC_000006.11:g.80816473G>T
• NM_183050.2:c.63G>T
• NR_134945.2:n.86G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs368345065

NCBI 1000 Genomes Browser:

rs368345065

Molecular consequence:

• NM_001318975.1:c.-15+73G>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_134945.2:n.86G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000056.5:c.63G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_183050.4:c.63G>T - synonymous variant - [Sequence Ontology: SO:0001819]