NM_000152.5(GAA):c.2064C>T (p.Ser688=) AND Glycogen storage disease, type II
- Germline classification:
- Conflicting interpretations of pathogenicity (4 submissions)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000322043.18
Allele description [Variation Report for NM_000152.5(GAA):c.2064C>T (p.Ser688=)]
NM_000152.5(GAA):c.2064C>T (p.Ser688=)
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 caspase recruitment domain family member 19 (CARD19), transcript va...
Homo sapiens caspase recruitment domain family member 19 (CARD19), transcript variant 1, mRNAgi|1519315017|ref|NM_032310.5|Nucleotide
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TOXICOLOGICAL PROFILE FOR ACRYLAMIDE
TOXICOLOGICAL PROFILE FOR ACRYLAMIDE
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024