NM_014363.6(SACS):c.13610G>A (p.Arg4537Lys) AND Spastic paraplegia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002571517.3
Allele description [Variation Report for NM_014363.6(SACS):c.13610G>A (p.Arg4537Lys)]
NM_014363.6(SACS):c.13610G>A (p.Arg4537Lys)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
-
Thamnaconus septentrionalis heat shock protein family A member 5 (hspa5) mRNA, c...
Thamnaconus septentrionalis heat shock protein family A member 5 (hspa5) mRNA, complete cdsgi|2733068354|gb|PP349929.1|Nucleotide
-
BEL1-like homeodomain protein 9 [Vitis vinifera]
BEL1-like homeodomain protein 9 [Vitis vinifera]gi|2581585987|ref|XP_059593394.1|Protein
-
PREDICTED: Mus musculus CASK interacting protein 1 (Caskin1), transcript variant...
PREDICTED: Mus musculus CASK interacting protein 1 (Caskin1), transcript variant X2, mRNAgi|1907124579|ref|XM_036160626.1|Nucleotide
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Last Updated: Sep 29, 2024