NM_032520.5(GNPTG):c.29T>A (p.Leu10Ter) AND GNPTG-mucolipidosis
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Nov 7, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000673912.5
Allele description [Variation Report for NM_032520.5(GNPTG):c.29T>A (p.Leu10Ter)]
NM_032520.5(GNPTG):c.29T>A (p.Leu10Ter)
Condition(s)
- Name:
- GNPTG-mucolipidosis
- Synonyms:
- ML III GAMMA; ML IIIC; MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009652; MedGen: C1854896; Orphanet: 577; OMIM: 252605
Assertion and evidence details
Last Updated: Sep 29, 2024