NM_152328.5(ADSS1):c.1291C>T (p.Arg431Cys) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004045102.1
Allele description [Variation Report for NM_152328.5(ADSS1):c.1291C>T (p.Arg431Cys)]
NM_152328.5(ADSS1):c.1291C>T (p.Arg431Cys)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
AMELY amelogenin Y-linked [Homo sapiens]
AMELY amelogenin Y-linked [Homo sapiens]Gene ID:266Gene
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Gene Links for GEO Profiles (Select 19554703) (1)
Gene
-
Related gene-specific medical variations for Gene (Select 79150) (1)
ClinVar
-
Concise Conserved Domain Links for Protein (Select 2462574564) (0)
Conserved Domains
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Last Updated: May 7, 2024