ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.922G>C (p.Asp308His)

dbSNP: rs2124020573
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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 RCV001375842 SCV001572614 likely pathogenic Mucopolysaccharidosis, MPS-II 2014-06-01 no assertion criteria provided research The change c.922G>C (p.D308H) was a missense variant, where the acidic polar negative amino acid Aspartic acid at 333 position was substituted by aromatic basic polar amino acid Histidine. It was detected in a hemizygous state in one male patient with sever phenotype from New Delhi, India.

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