NM_014363.6(SACS):c.11116A>G (p.Ile3706Val) AND Spastic paraplegia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001208129.4
Allele description [Variation Report for NM_014363.6(SACS):c.11116A>G (p.Ile3706Val)]
NM_014363.6(SACS):c.11116A>G (p.Ile3706Val)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
-
Mus musculus small integral membrane protein 29 (Smim29), mRNA
Mus musculus small integral membrane protein 29 (Smim29), mRNAgi|126157526|ref|NM_001002895.2|Nucleotide
-
Tssr2529 AND (alive[prop]) (0)
Gene
-
Gm39526 predicted gene, 39526 [Mus musculus]
Gm39526 predicted gene, 39526 [Mus musculus]Gene ID:105243704Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024