NM_022369.4(STRA6):c.1391T>G (p.Leu464Arg) AND Matthew-Wood syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 22, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000546496.9
Allele description [Variation Report for NM_022369.4(STRA6):c.1391T>G (p.Leu464Arg)]
NM_022369.4(STRA6):c.1391T>G (p.Leu464Arg)
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
-
unnamed protein product [Homo sapiens]
unnamed protein product [Homo sapiens]gi|193785739|dbj|BAG51174.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024