NM_024312.5(GNPTAB):c.2728T>C (p.Leu910=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003769122.2
Allele description [Variation Report for NM_024312.5(GNPTAB):c.2728T>C (p.Leu910=)]
NM_024312.5(GNPTAB):c.2728T>C (p.Leu910=)
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
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Mus musculus DNA segment, Chr 12, ERATO Doi 551, expressed (D12Ertd551e), mRNA
Mus musculus DNA segment, Chr 12, ERATO Doi 551, expressed (D12Ertd551e), mRNAgi|21311962|ref|NM_028731.1|Nucleotide
-
Synthetic construct Homo sapiens clone IMAGE:100064017, MGC:193196 retinol dehyd...
Synthetic construct Homo sapiens clone IMAGE:100064017, MGC:193196 retinol dehydrogenase 16 (all-trans) (RDH16) mRNA, encodes complete proteingi|182887830|gb|BC160081.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024