ClinVar

NM_183050.4(BCKDHB):c.1147T>G (p.Tyr383Asp)

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: 80343772 (on Assembly GRCh38)
• Chr6: 81053489 (on Assembly GRCh37)

Preferred name:

NM_183050.4(BCKDHB):c.1147T>G (p.Tyr383Asp)

HGVS:

• NC_000006.12:g.80343772T>G
• NG_009775.2:g.242146T>G
• NM_000056.5:c.1147T>G
• NM_001318975.1:c.937T>G
• NM_183050.4:c.1147T>GMANE SELECT
• NP_000047.1:p.Tyr383Asp
• NP_001305904.1:p.Tyr313Asp
• NP_898871.1:p.Tyr383Asp
• NC_000006.11:g.81053489T>G
• NM_183050.2:c.1147T>G
• NR_134945.2:n.1264T>G

This HGVS expression did not pass validation

Protein change:

Y313D

Links:

dbSNP: rs398124566

NCBI 1000 Genomes Browser:

rs398124566

Molecular consequence:

• NM_000056.5:c.1147T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318975.1:c.937T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_183050.4:c.1147T>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_134945.2:n.1264T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

6