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Variant (rsID / SNP)

rs150343959

CLPB

rs150343959 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLPB. Location: chromosome 11, position 72,004,653. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CLPBConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:72004653
Cytoband
11q13.4
HGVS
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys)
Allele change
Missense_R569C

Associated conditions / phenotypes

3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia

Public references

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