NM_024312.5(GNPTAB):c.18G>A (p.Leu6=) AND Pseudo-Hurler polydystrophy
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Jul 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000365527.7
Allele description [Variation Report for NM_024312.5(GNPTAB):c.18G>A (p.Leu6=)]
NM_024312.5(GNPTAB):c.18G>A (p.Leu6=)
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
-
small toxic polypeptide LdrD [Escherichia coli str. K-12 substr. MG1655]
small toxic polypeptide LdrD [Escherichia coli str. K-12 substr. MG1655]gi|49176368|gnl|REF_b4453|YP_026227 YP_026227.1|Protein
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See more...Assertion and evidence details
Last Updated: Mar 10, 2024