Variant (rsID / SNP)

rs144078282

rs144078282 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLPB. Location: chromosome 11, position 72,013,383. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CLPBPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:72013383
Cytoband: 11q13.4
HGVS: NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)
Allele change: Missense_R349G

Associated conditions / phenotypes

3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.