NM_024312.5(GNPTAB):c.2887C>T (p.Arg963Trp) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 13, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003089971.2
Allele description [Variation Report for NM_024312.5(GNPTAB):c.2887C>T (p.Arg963Trp)]
NM_024312.5(GNPTAB):c.2887C>T (p.Arg963Trp)
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
-
Gm29983 predicted gene, 29983 [Mus musculus]
Gm29983 predicted gene, 29983 [Mus musculus]Gene ID:102631713Gene
-
LOC110120371 [Mus musculus]
LOC110120371 [Mus musculus]Gene ID:110120371Gene
-
LOC128927547 [Mus musculus]
LOC128927547 [Mus musculus]Gene ID:128927547Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024