Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Pediatrics, |
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. |