NM_000152.5(GAA):c.2655_2656delinsT (p.Ile885_Val886insTer) AND Glycogen storage disease, type II
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003468232.1
Allele description [Variation Report for NM_000152.5(GAA):c.2655_2656delinsT (p.Ile885_Val886insTer)]
NM_000152.5(GAA):c.2655_2656delinsT (p.Ile885_Val886insTer)
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 hypothetical protein FKSG28 (FKSG28), mRNA
Homo sapiens hypothetical protein FKSG28 (FKSG28), mRNAgi|13569890|ref|NM_030929.1|Nucleotide
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Mus musculus Kazal-type serine peptidase inhibitor domain 1 (Kazald1), transcrip...
Mus musculus Kazal-type serine peptidase inhibitor domain 1 (Kazald1), transcript variant 2, mRNAgi|1377224611|ref|NM_178929.5|Nucleotide
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Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E, mRNA (...
Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E, mRNA (cDNA clone MGC:120037 IMAGE:40017964), complete cdsgi|72533343|gb|BC101185.2|Nucleotide
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hypothetical protein ARALYDRAFT_322675 [Arabidopsis lyrata subsp. lyrata]
hypothetical protein ARALYDRAFT_322675 [Arabidopsis lyrata subsp. lyrata]gi|297814690|ref|XP_002875228.1||gn _WGS:ADBK|ARALYDRAFT_322675Protein
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PREDICTED: uncharacterized protein LOC100259526 [Vitis vinifera]
PREDICTED: uncharacterized protein LOC100259526 [Vitis vinifera]gi|225429426|ref|XP_002276186.1|Protein
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See more...Assertion and evidence details
Last Updated: Dec 30, 2023