NM_000152.5(GAA):c.1076-11T>C AND Glycogen storage disease, type II
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 21, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002730663.3
Allele description [Variation Report for NM_000152.5(GAA):c.1076-11T>C]
NM_000152.5(GAA):c.1076-11T>C
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
-
SRP233278 (18)
SRA
-
Monacilla typica isolate G170 cytochrome c oxidase subunit I gene, partial cds; ...
Monacilla typica isolate G170 cytochrome c oxidase subunit I gene, partial cds; mitochondrialgi|1134784036|gb|KU247700.1|Nucleotide
-
Homo sapiens glutaredoxin (thioltransferase), mRNA (cDNA clone MGC:13682 IMAGE:4...
Homo sapiens glutaredoxin (thioltransferase), mRNA (cDNA clone MGC:13682 IMAGE:4333310), complete cdsgi|15012114|gb|BC010965.1|Nucleotide
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Last Updated: Sep 29, 2024