NM_025137.4(SPG11):c.5747C>T (p.Ala1916Val) AND Hereditary spastic paraplegia 11
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002009975.4
Allele description [Variation Report for NM_025137.4(SPG11):c.5747C>T (p.Ala1916Val)]
NM_025137.4(SPG11):c.5747C>T (p.Ala1916Val)
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
-
hypothetical protein Naga_100130g4 [Nannochloropsis gaditana]
hypothetical protein Naga_100130g4 [Nannochloropsis gaditana]gi|585107323|gb|EWM25552.1||gnl|WGS |Naga_100130g4.10555Protein
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Last Updated: Sep 29, 2024