NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 31, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000764511.2
Allele description [Variation Report for NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg)]
NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg)
Condition(s)
- Name:
- Spinocerebellar ataxia type 29 (SCA29)
- Synonyms:
- Cerebellar ataxia early-onset nonprogressive; CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT; Spinocerebellar ataxia 29, congenital nonprogressive
- Identifiers:
- MONDO: MONDO:0007298; MedGen: C1861732; Orphanet: 208513; OMIM: 117360
- Name:
- Spinocerebellar ataxia type 15/16 (SCA15)
- Synonyms:
- SCA16 (formerly); Spinocerebellar ataxia 16 (formerly); Spinocerebellar Ataxia Type 15; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011694; MedGen: C1847725; OMIM: 606658
Assertion and evidence details
Last Updated: Oct 8, 2024