Variant (rsID / SNP)

rs148611356

rs148611356 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTSF. Location: chromosome 11, position 66,333,800. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CTSFConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 11:66333800
Cytoband: 11q13.2
HGVS: NM_003793.4(CTSF):c.683C>G (p.Thr228Arg)
Allele change: Missense_T228R

Associated conditions / phenotypes

Seizure|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.