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Variant (rsID / SNP)

rs756112449

CTSD

rs756112449 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTSD. Location: chromosome 11, position 1,785,126. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CTSDConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:1785126
Cytoband
11p15.5
HGVS
NM_001909.5(CTSD):c.-37G>A
Allele change
Silent

Associated conditions / phenotypes

Neuronal ceroid lipofuscinosis 10

Public references

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