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rs113994211

From SNPedia

ClinVar
Risk rs113994211(-;-) Rs113994211(TGCCCTACATCAAGGTACGGCCTTGCC;TGCCCTACATCAAGGTACGGCCTTGCC)
Alt rs113994211(-;-) Rs113994211(TGCCCTACATCAAGGTACGGCCTTGCC;TGCCCTACATCAAGGTACGGCCTTGCC)
Reference Rs113994211(AAGGTACGGCCTTGCCTGCCCTACATC;AAGGTACGGCCTTGCCTGCCCTACATC)
Significance Other
Disease Nephropathic cystinosis
Variation info
Gene CTNS
CLNDBN Nephropathic cystinosis
Reversed 0
HGVS NC_000017.10:g.3559878_3559904del27
CLNSRC ClinVar GeneReviews
CLNACC RCV000020627.4,


[PMID 12442267] Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis.