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)
-
ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit, partial (chloropl...
ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit, partial (chloroplast) [Polygonum filicaule]gi|351290531|gb|AEQ39725.1|Protein
-
Leiognathus equula D-loop, partial sequence; mitochondrial.
Leiognathus equula D-loop, partial sequence; mitochondrial.PopSet: 1859767010PopSet
-
Chain B, Protein kinase
Chain B, Protein kinasegi|158430251|pdb|2QKW|BProtein
-
Aplasia/Hypoplasia of the 3rd finger
Aplasia/Hypoplasia of the 3rd fingerMedGen
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See more...Assertion and evidence details
Last Updated: Apr 23, 2022