NM_003982.4(SLC7A7):c.998+7G>C AND Lysinuric protein intolerance
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003616652.1
Allele description [Variation Report for NM_003982.4(SLC7A7):c.998+7G>C]
NM_003982.4(SLC7A7):c.998+7G>C
Condition(s)
-
txid591936[Organism] AND (latest[filter] AND all[filter] NOT anom... (1)
txid591936[Organism] AND (latest[filter] AND all[filter] NOT anomalous[filter])SearchAssembly
-
"Laboratory for Molecular Medicine, Mass General Brigham Personal... (1)
"Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine"[submitter] AND "ATP2A3"[gene]SearchClinVar
-
Homo sapiens phosphodiesterase 6G (PDE6G), RefSeqGene on chromosome 17
Homo sapiens phosphodiesterase 6G (PDE6G), RefSeqGene on chromosome 17gi|1477500247|ref|NG_009834.2|Nucleotide
-
GSE9634[Accession] (20)
GEO DataSets
-
"Laboratory for Molecular Medicine, Mass General Brigham Personal... (1)
"Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine"[submitter] AND "TOR1A"[gene]SearchClinVar
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024