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rs199473683

From SNPedia

ClinVar
Risk
Alt
Reference Rs199473683(TTGTCCTGCCTTTCTATCCGA;TTGTCCTGCCTTTCTATCCGA)
Significance Pathogenic
Disease Cerebroretinal microangiopathy with calcifications and cysts
Variation info
Gene CTC1
CLNDBN Cerebroretinal microangiopathy with calcifications and cysts
Reversed 1
HGVS NC_000017.10:g.8131546_8131566del21
CLNSRC
CLNACC


[PMID 22387016OA-icon.png] Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.