NM_002764.4(PRPS1):c.*725T>C AND Arts syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000349093.5
Allele description [Variation Report for NM_002764.4(PRPS1):c.*725T>C]
NM_002764.4(PRPS1):c.*725T>C
Condition(s)
- Name:
- Arts syndrome (ARTS)
- Synonyms:
- X-linked fatal ataxia with deafness and loss of vision; MENTAL RETARDATION, X-LINKED, SYNDROMIC 18; MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010533; MedGen: C0796028; Orphanet: 1187; OMIM: 301835
Assertion and evidence details
Last Updated: Dec 24, 2023