Variant (rsID / SNP)

rs77345581

rs77345581 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLPB. Location: chromosome 11, position 72,006,593. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CLPBBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:72006593
Cytoband: 11q13.4
HGVS: NM_001258392.3(CLPB):c.1429C>T (p.Leu477=)
Allele change: Synonymous_L448L

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.