ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1506G>T (p.Trp502Cys)

dbSNP: rs2124648374
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatrics, All India Institute of Medical Sciences, New Delhi RCV001376699 SCV001573791 affects Mucopolysaccharidosis, MPS-II 2014-04-10 no assertion criteria provided research The change c.1506G>T (p.W502C) was found to be a missense variant, where the aromatic nonpolar neutral amino acid Tryptophan at 502 position was substituted by sulfur-containing nonpolar neutral amino acid Cysteine. It was detected in a hemizygous state in one patient with attenuated phenotype from UP, India.

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