NM_001379110.1(SLC9A6):c.130G>C (p.Ala44Pro) AND Christianson syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002534264.3
Allele description [Variation Report for NM_001379110.1(SLC9A6):c.130G>C (p.Ala44Pro)]
NM_001379110.1(SLC9A6):c.130G>C (p.Ala44Pro)
Condition(s)
- Name:
- Christianson syndrome (MRXSCH)
- Synonyms:
- MRXS Christianson; Angelman-like syndrome X-linked; Mental retardation microcephaly epilepsy and ataxia syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010278; MedGen: C2678194; Orphanet: 85278; OMIM: 300243
Assertion and evidence details
Last Updated: Sep 29, 2024