NM_025137.4(SPG11):c.2948A>T (p.Lys983Ile) AND Hereditary spastic paraplegia 11
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000696485.5
Allele description [Variation Report for NM_025137.4(SPG11):c.2948A>T (p.Lys983Ile)]
NM_025137.4(SPG11):c.2948A>T (p.Lys983Ile)
Condition(s)
- Name:
- Hereditary spastic paraplegia 11
- Synonyms:
- SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, COMPLICATED, WITH THIN CORPUS CALLOSUM; SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM; Spastic paraplegia 11, autosomal recessive; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011445; MedGen: C1858479; Orphanet: 2822; OMIM: 604360
-
Tssr1393 AND (alive[prop]) (0)
Gene
-
Gm46245 AND (alive[prop]) (1)
Gene
-
Gm46245 predicted gene, 46245 [Mus musculus]
Gm46245 predicted gene, 46245 [Mus musculus]Gene ID:108167837Gene
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Last Updated: Feb 7, 2023