ClinVar

NM_183050.4(BCKDHB):c.526A>T (p.Asn176Tyr)

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: 80168923 (on Assembly GRCh38)
• Chr6: 80878640 (on Assembly GRCh37)

Preferred name:

NM_183050.4(BCKDHB):c.526A>T (p.Asn176Tyr)

HGVS:

• NC_000006.12:g.80168923A>T
• NG_009775.2:g.67297A>T
• NM_000056.5:c.526A>T
• NM_001318975.1:c.316A>T
• NM_183050.4:c.526A>TMANE SELECT
• NP_000047.1:p.Asn176Tyr
• NP_001305904.1:p.Asn106Tyr
• NP_898871.1:p.Asn176Tyr
• NP_898871.1:p.Asn176Tyr
• NC_000006.11:g.80878640A>T
• NM_183050.2:c.526A>T
• NM_183050.3:c.526A>T
• NR_134945.2:n.549A>T

This HGVS expression did not pass validation

Protein change:

N106Y

Links:

dbSNP: rs398124582

NCBI 1000 Genomes Browser:

rs398124582

Molecular consequence:

• NM_000056.5:c.526A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318975.1:c.316A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_183050.4:c.526A>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_134945.2:n.549A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1