ClinVar

NM_183050.4(BCKDHB):c.158A>C (p.His53Pro)

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: 80106851 (on Assembly GRCh38)
• Chr6: 80816568 (on Assembly GRCh37)

Preferred name:

NM_183050.4(BCKDHB):c.158A>C (p.His53Pro)

HGVS:

• NC_000006.12:g.80106851A>C
• NG_009775.2:g.5225A>C
• NM_000056.5:c.158A>C
• NM_001318975.1:c.-15+168A>C
• NM_183050.4:c.158A>CMANE SELECT
• NP_000047.1:p.His53Pro
• NP_898871.1:p.His53Pro
• NC_000006.11:g.80816568A>C
• NM_183050.2:c.158A>C
• NR_134945.2:n.181A>C

This HGVS expression did not pass validation

Protein change:

H53P

Links:

dbSNP: rs398124567

NCBI 1000 Genomes Browser:

rs398124567

Molecular consequence:

• NM_001318975.1:c.-15+168A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_000056.5:c.158A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_183050.4:c.158A>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_134945.2:n.181A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

4