NM_022369.4(STRA6):c.826C>T (p.Arg276Cys) AND Matthew-Wood syndrome
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jul 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002066252.17
Allele description
NM_022369.4(STRA6):c.826C>T (p.Arg276Cys)
Condition(s)
- Name:
- Matthew-Wood syndrome (MCOPS9)
- Synonyms:
- ANOPHTHALMIA, CLINICAL, WITH MILD FACIAL DYSMORPHISM AND VARIABLE MALFORMATIONS OF THE LUNG, HEART, AND DIAPHRAGM; PULMONARY AGENESIS, MICROPHTHALMIA, AND DIAPHRAGMATIC DEFECT; Microphthalmia syndromic 9; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011010; MedGen: C1832661; Orphanet: 2470; OMIM: 601186
Assertion and evidence details
Last Updated: Sep 16, 2024