NM_000152.5(GAA):c.1194+10G>T AND Glycogen storage disease, type II
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003844219.2
Allele description [Variation Report for NM_000152.5(GAA):c.1194+10G>T]
NM_000152.5(GAA):c.1194+10G>T
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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D-lysine 5,6-aminomutase beta subunit [uncultured spirochete]
D-lysine 5,6-aminomutase beta subunit [uncultured spirochete]gi|1528066174|emb|SLM11282.1||gnl|W DM|SLM11282Protein
-
D-lysine 5,6-aminomutase alpha subunit [Actinokineospora sp. UTMC 2448]
D-lysine 5,6-aminomutase alpha subunit [Actinokineospora sp. UTMC 2448]gi|2290870080|gnl|DSMZ|Actkin_03090 VS79343.1|Protein
-
Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA
Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNAgi|1519244459|ref|NM_000418.4|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024