ClinVar

NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn)

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: 80169030 (on Assembly GRCh38)
• Chr6: 80878747 (on Assembly GRCh37)

Preferred name:

NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn)

HGVS:

• NC_000006.12:g.80169030G>C
• NG_009775.2:g.67404G>C
• NM_000056.5:c.633G>C
• NM_001318975.1:c.423G>C
• NM_183050.4:c.633G>CMANE SELECT
• NP_000047.1:p.Lys211Asn
• NP_001305904.1:p.Lys141Asn
• NP_898871.1:p.Lys211Asn
• NC_000006.11:g.80878747G>C
• NM_183050.2:c.633G>C
• NM_183050.3:c.633G>C
• NR_134945.2:n.656G>C

This HGVS expression did not pass validation

Protein change:

K141N

Links:

dbSNP: rs143427811

NCBI 1000 Genomes Browser:

rs143427811

Molecular consequence:

• NM_000056.5:c.633G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318975.1:c.423G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_183050.4:c.633G>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_134945.2:n.656G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]