NM_001372044.2(SHANK3):c.3133G>T (p.Ala1045Ser) AND Inborn genetic diseases
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 6, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002313967.9
Allele description [Variation Report for NM_001372044.2(SHANK3):c.3133G>T (p.Ala1045Ser)]
NM_001372044.2(SHANK3):c.3133G>T (p.Ala1045Ser)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Chromosome neighbors for GEO Profiles (Select 74683758) (20)
GEO Profiles
-
TATA box-binding protein-associated factor RNA polymerase I subunit C isoform X4...
TATA box-binding protein-associated factor RNA polymerase I subunit C isoform X4 [Homo sapiens]gi|2462551551|ref|XP_054170281.1|Protein
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Last Updated: Sep 8, 2024