NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) AND multiple conditions
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 18, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000871280.8
Allele description [Variation Report for NM_000325.6(PITX2):c.562G>A (p.Ala188Thr)]
NM_000325.6(PITX2):c.562G>A (p.Ala188Thr)
Condition(s)
- Name:
- Axenfeld-Rieger syndrome type 1 (RIEG1)
- Synonyms:
- Rieger syndrome type 1
- Identifiers:
- MONDO: MONDO:0008386; MedGen: C3714873; Orphanet: 782; OMIM: 180500
- Name:
- Anterior segment dysgenesis 4 (ASGD4)
- Synonyms:
- Iridogoniodysgenesis, dominant type; Iridogoniodysgenesis type 2; Iridogoniodysgenesis syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007662; MedGen: C1842031; Orphanet: 91483; OMIM: 137600
Assertion and evidence details
Last Updated: Oct 13, 2024