Variant (rsID / SNP)

rs17571

rs17571 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTSD. Location: chromosome 11, position 1,782,594. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CTSDBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:1782594
Cytoband: 11p15.5
HGVS: NM_001909.5(CTSD):c.173C>T (p.Ala58Val)
Allele change: Missense_A58V

Associated conditions / phenotypes

Neuronal ceroid lipofuscinosis 10|Seizure|Neuronal ceroid lipofuscinosis

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.