NM_000152.5(GAA):c.2210C>T (p.Thr737Ile) AND Glycogen storage disease, type II
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003086613.3
Allele description [Variation Report for NM_000152.5(GAA):c.2210C>T (p.Thr737Ile)]
NM_000152.5(GAA):c.2210C>T (p.Thr737Ile)
Condition(s)
- Name:
- Glycogen storage disease, type II (GSD2)
- Synonyms:
- ACID ALPHA-GLUCOSIDASE DEFICIENCY; GLYCOGENOSIS, GENERALIZED, CARDIAC FORM; GSD II; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009290; MedGen: C0017921; Orphanet: 365; OMIM: 232300
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Homo sapiens transmembrane protein 134, mRNA (cDNA clone IMAGE:6514633), with ap...
Homo sapiens transmembrane protein 134, mRNA (cDNA clone IMAGE:6514633), with apparent retained introngi|30704875|gb|BC051854.1|Nucleotide
-
Synthetic construct Homo sapiens clone IMAGE:100015596, MGC:183116 fidgetin (FIG...
Synthetic construct Homo sapiens clone IMAGE:100015596, MGC:183116 fidgetin (FIGN) mRNA, encodes complete proteingi|151556525|gb|BC148649.1|Nucleotide
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Last Updated: Sep 29, 2024