Variant (rsID / SNP)

rs141915593

rs141915593 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTSF. Location: chromosome 11, position 66,332,479. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

CTSFLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:66332479
Cytoband: 11q13.2
HGVS: NM_003793.4(CTSF):c.1046-2A>C
Allele change: Silent

Associated conditions / phenotypes

Neuronal ceroid lipofuscinosis 13

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.