NM_000152.5(GAA):c.1438-10C>T AND Glycogen storage disease, type II
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 24, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000920849.8
Allele description
NM_000152.5(GAA):c.1438-10C>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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prominin-1 isoform X7 [Mus musculus]
prominin-1 isoform X7 [Mus musculus]gi|568933883|ref|XP_006503852.1|Protein
-
prominin-1 isoform X4 [Mus musculus]
prominin-1 isoform X4 [Mus musculus]gi|1039770768|ref|XP_017176214.1|Protein
-
SRX19713153 (1)
SRA
-
Astrophyton muricatum isolate 445.1E 18S small subunit ribosomal RNA gene, parti...
Astrophyton muricatum isolate 445.1E 18S small subunit ribosomal RNA gene, partial sequencegi|1005665183|gb|KU672462.1|Nucleotide
-
NADH dehydrogenase subunit 1 (mitochondrion) [Zygaena felix hemerocallis]
NADH dehydrogenase subunit 1 (mitochondrion) [Zygaena felix hemerocallis]gi|159025059|emb|CAH59805.1|Protein
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Last Updated: May 12, 2024