NM_024312.5(GNPTAB):c.1086T>C (p.Asn362=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 29, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000902086.9
Allele description [Variation Report for NM_024312.5(GNPTAB):c.1086T>C (p.Asn362=)]
NM_024312.5(GNPTAB):c.1086T>C (p.Asn362=)
Condition(s)
- Name:
- Mucolipidosis type II
- Synonyms:
- ML II ALPHA/BETA; I cell disease; Mucolipidosis 2; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009650; MedGen: C2673377; Orphanet: 576; OMIM: 252500
- 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
-
oxidoreductase [Pseudarthrobacter sulfonivorans]
oxidoreductase [Pseudarthrobacter sulfonivorans]gi|971863243|ref|WP_058932135.1|Protein
-
SDR family NAD(P)-dependent oxidoreductase [Pseudarthrobacter sulfonivorans]
SDR family NAD(P)-dependent oxidoreductase [Pseudarthrobacter sulfonivorans]gi|971862263|ref|WP_058931155.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024