Variant (rsID / SNP)

rs144942416

rs144942416 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLPB. Location: chromosome 11, position 72,019,648. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CLPBUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:72019648
Cytoband: 11q13.4
HGVS: NM_001258392.3(CLPB):c.989C>T (p.Ala330Val)
Allele change: Missense_A301V

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.