NM_024312.5(GNPTAB):c.1191_1194dup (p.Ser399fs) AND Mucolipidosis type II
- Germline classification:
- not provided (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000032289.3
Allele description [Variation Report for NM_024312.5(GNPTAB):c.1191_1194dup (p.Ser399fs)]
NM_024312.5(GNPTAB):c.1191_1194dup (p.Ser399fs)
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
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Homo sapiens phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce hom...
Homo sapiens phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila), mRNA (cDNA clone MGC:132700 IMAGE:8144043), complete cdsgi|85397152|gb|BC105040.1|Nucleotide
-
Homo sapiens cDNA clone IMAGE:5284784, containing frame-shift errors
Homo sapiens cDNA clone IMAGE:5284784, containing frame-shift errorsgi|23243322|gb|BC036108.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 8, 2022