NM_003900.5(SQSTM1):c.1128del (p.Gly376_Leu377insTer) AND Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 10, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001253614.1
Allele description [Variation Report for NM_003900.5(SQSTM1):c.1128del (p.Gly376_Leu377insTer)]
NM_003900.5(SQSTM1):c.1128del (p.Gly376_Leu377insTer)
Condition(s)
-
Chain F, PEROXISOMAL TARGETING SIGNAL 1 RECEPTOR
Chain F, PEROXISOMAL TARGETING SIGNAL 1 RECEPTORgi|119389038|pdb|2C0M|FProtein
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Last Updated: Apr 23, 2022