NM_000152.5(GAA):c.221G>A (p.Arg74His) AND Glycogen storage disease, type II
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jun 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001242349.6
Allele description [Variation Report for NM_000152.5(GAA):c.221G>A (p.Arg74His)]
NM_000152.5(GAA):c.221G>A (p.Arg74His)
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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PREDICTED: Piliocolobus tephrosceles cytokine receptor like factor 2 (CRLF2), mR...
PREDICTED: Piliocolobus tephrosceles cytokine receptor like factor 2 (CRLF2), mRNAgi|1788698942|ref|XM_031935006.1|Nucleotide
-
PREDICTED: Piliocolobus tephrosceles glycogenin 2 (GYG2), partial mRNA
PREDICTED: Piliocolobus tephrosceles glycogenin 2 (GYG2), partial mRNAgi|1788698940|ref|XM_031935005.1|Nucleotide
-
PREDICTED: Piliocolobus tephrosceles family with sequence similarity 9 member B ...
PREDICTED: Piliocolobus tephrosceles family with sequence similarity 9 member B (FAM9B), mRNAgi|1788698924|ref|XM_026449806.2|Nucleotide
-
alpha-sarcoglycan [Budorcas taxicolor]
alpha-sarcoglycan [Budorcas taxicolor]gi|2411737844|ref|XP_052513749.1|Protein
-
Triglochin palustris voucher AKM23-475 ribulose-1,5-bisphosphate carboxylase/oxy...
Triglochin palustris voucher AKM23-475 ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit (rbcL) gene, partial cds; chloroplastgi|2612519258|gb|OR670313.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024