Variant (rsID / SNP)

rs557342549

rs557342549 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTSD. Location: chromosome 11, position 1,774,856. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CTSDBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:1774856
Cytoband: 11p15.5
HGVS: NM_001909.5(CTSD):c.1116C>T (p.Gly372=)
Allele change: Synonymous_G372G

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.