NM_000642.3(AGL):c.2001+13G>A AND Glycogen storage disease type III
- Germline classification:
- Likely benign (1 submission)
- 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:
- RCV002126444.6
Allele description [Variation Report for NM_000642.3(AGL):c.2001+13G>A]
NM_000642.3(AGL):c.2001+13G>A
Condition(s)
- Name:
- Glycogen storage disease type III (GSD3)
- Synonyms:
- Glycogen storage disease type 3; Forbes disease; Cori disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009291; MedGen: C0017922; Orphanet: 366; OMIM: 232400
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hypothetical protein SAMN02745206_01417, partial [Desulfacinum infernum DSM 9756...
hypothetical protein SAMN02745206_01417, partial [Desulfacinum infernum DSM 9756]gi|1110153471|emb|SHF13643.1||gnl|W VB|SHF13643Protein
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LOC102407803 [Bubalus bubalis]
LOC102407803 [Bubalus bubalis]Gene ID:102407803Gene
-
LOC120508713 [Passer montanus]
LOC120508713 [Passer montanus]Gene ID:120508713Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024