NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp) AND Inborn genetic diseases
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 15, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000624103.9
Allele description [Variation Report for NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp)]
NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Smc3 structural maintenance of chromosomes 3 [Mus musculus]
Smc3 structural maintenance of chromosomes 3 [Mus musculus]Gene ID:13006Gene
-
13006[uid] AND (alive[prop]) (1)
Gene
-
Homo sapiens glutamate receptor, metabotropic 2, mRNA (cDNA clone MGC:142175 IMA...
Homo sapiens glutamate receptor, metabotropic 2, mRNA (cDNA clone MGC:142175 IMAGE:8322667), complete cdsgi|109730558|gb|BC113615.1|Nucleotide
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Last Updated: Jun 23, 2024