NM_000152.5(GAA):c.1132T>A (p.Tyr378Asn) AND Glycogen storage disease, type II
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003503349.2
Allele description [Variation Report for NM_000152.5(GAA):c.1132T>A (p.Tyr378Asn)]
NM_000152.5(GAA):c.1132T>A (p.Tyr378Asn)
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 KIAA1008 protein mRNA, complete cds
Homo sapiens KIAA1008 protein mRNA, complete cdsgi|17225571|gb|AF330044.1|Nucleotide
-
MULTISPECIES: Holliday junction branch migration DNA helicase RuvB [Bacteroidace...
MULTISPECIES: Holliday junction branch migration DNA helicase RuvB [Bacteroidaceae]gi|492422048|ref|WP_005838742.1|Protein
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Ancylostoma caninum strain Baltimore A_caninum.1.0_Cont8873, whole genome shotgu...
Ancylostoma caninum strain Baltimore A_caninum.1.0_Cont8873, whole genome shotgun sequencegi|1432379346|gb|JOJR01008870.1||gn :JOJR01|A_caninum.1.0_Cont8873Nucleotide
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Ancylostoma caninum strain Baltimore A_caninum.1.0_Cont8382, whole genome shotgu...
Ancylostoma caninum strain Baltimore A_caninum.1.0_Cont8382, whole genome shotgun sequencegi|1432379878|gb|JOJR01008379.1||gn :JOJR01|A_caninum.1.0_Cont8382Nucleotide
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Ancylostoma caninum strain Baltimore A_caninum.1.0_Cont8373, whole genome shotgu...
Ancylostoma caninum strain Baltimore A_caninum.1.0_Cont8373, whole genome shotgun sequencegi|1432379889|gb|JOJR01008370.1||gn :JOJR01|A_caninum.1.0_Cont8373Nucleotide
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Last Updated: Sep 29, 2024