Variant (rsID / SNP)

rs200203460

rs200203460 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLPB. Location: chromosome 11, position 72,013,356. Clinical significance in the table: Pathogenic.

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Reference-table entries

CLPBPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:72013356
Cytoband: 11q13.4
HGVS: NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter)
Allele change: Nonsense_R358X

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.