ClinVar

NM_183050.4(BCKDHB):c.508C>A (p.Arg170Ser)

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: 80168905 (on Assembly GRCh38)
• Chr6: 80878622 (on Assembly GRCh37)

Preferred name:

NM_183050.4(BCKDHB):c.508C>A (p.Arg170Ser)

HGVS:

• NC_000006.12:g.80168905C>A
• NG_009775.2:g.67279C>A
• NM_000056.5:c.508C>A
• NM_001318975.1:c.298C>A
• NM_183050.4:c.508C>AMANE SELECT
• NP_000047.1:p.Arg170Ser
• NP_001305904.1:p.Arg100Ser
• NP_898871.1:p.Arg170Ser
• NC_000006.11:g.80878622C>A
• NM_183050.2:c.508C>A
• NR_134945.2:n.531C>A

This HGVS expression did not pass validation

Protein change:

R100S

Links:

dbSNP: rs398124581

NCBI 1000 Genomes Browser:

rs398124581

Molecular consequence:

• NM_000056.5:c.508C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318975.1:c.298C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_183050.4:c.508C>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_134945.2:n.531C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

2