NM_001127178.3(PIGG):c.1633T>C (p.Ser545Pro) AND Intellectual disability, autosomal recessive 53
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000821363.6
Allele description [Variation Report for NM_001127178.3(PIGG):c.1633T>C (p.Ser545Pro)]
NM_001127178.3(PIGG):c.1633T>C (p.Ser545Pro)
Condition(s)
- Name:
- Intellectual disability, autosomal recessive 53 (NEDHSCA)
- Synonyms:
- GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 13; Mental retardation, autosomal recessive 53; NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY
- Identifiers:
- MONDO: MONDO:0014832; MedGen: C4310794; OMIM: 616917
Assertion and evidence details
Last Updated: Feb 20, 2024