NM_000152.5(GAA):c.1439T>C (p.Val480Ala) AND Glycogen storage disease, type II
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 27, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000818942.5
Allele description
NM_000152.5(GAA):c.1439T>C (p.Val480Ala)
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 solute carrier family 7 (cationic amino acid transporter, y+ system...
Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 (SLC7A5), mRNAgi|4507050|ref|NM_003486.1|Nucleotide
-
thrombospondin-2 isoform 5 [Homo sapiens]
thrombospondin-2 isoform 5 [Homo sapiens]gi|1833303483|ref|NP_001368871.1|Protein
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Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system...
Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 5, mRNA (cDNA clone MGC:25028 IMAGE:4470593), complete cdsgi|27503712|gb|BC042600.1|Nucleotide
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Thunnus albacares chromosome 22 genomic scaffold, fThuAlb1.1 SUPER_22, whole gen...
Thunnus albacares chromosome 22 genomic scaffold, fThuAlb1.1 SUPER_22, whole genome shotgun sequencegi|2108409592|gnl|ASM:GCF_914725854 PER_22|ref|NW_025335221.1||gpp|GPS_021942523.1|Nucleotide
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Taxonomy Links for Protein (Select 822675116) (1)
Taxonomy
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Last Updated: Mar 18, 2023