Variant (rsID / SNP)

rs149019571

rs149019571 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTSD. Location: chromosome 11, position 1,774,907. 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: 11:1774907
Cytoband: 11p15.5
HGVS: NM_001909.5(CTSD):c.1072-7G>A
Allele change: Silent

Associated conditions / phenotypes

Neuronal ceroid lipofuscinosis 10|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.