NM_024312.5(GNPTAB):c.527C>G (p.Pro176Arg) AND Pseudo-Hurler polydystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001563991.2
Allele description [Variation Report for NM_024312.5(GNPTAB):c.527C>G (p.Pro176Arg)]
NM_024312.5(GNPTAB):c.527C>G (p.Pro176Arg)
Condition(s)
- Name:
- Pseudo-Hurler polydystrophy (ML3)
- Synonyms:
- ML III; ML III ALPHA/BETA; Mucolipidosis type 3A; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018931; MedGen: C0033788; Orphanet: 577; OMIM: 252600
Assertion and evidence details
Last Updated: Dec 24, 2023