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Variant (rsID / SNP)

rs147800688

CTSD

rs147800688 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTSD. Location: chromosome 11, position 1,775,095. 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
11:1775095
Cytoband
11p15.5
HGVS
NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr)
Allele change
Missense_A337T

Associated conditions / phenotypes

Neuronal ceroid lipofuscinosis 10|Neuronal ceroid lipofuscinosis

Public references

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