NM_012431.3(SEMA3E):c.781G>A (p.Ala261Thr) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 21, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002486717.1
Allele description [Variation Report for NM_012431.3(SEMA3E):c.781G>A (p.Ala261Thr)]
NM_012431.3(SEMA3E):c.781G>A (p.Ala261Thr)
Condition(s)
- Name:
- CHARGE syndrome (CHARGE)
- Synonyms:
- CHARGE ASSOCIATION--COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES; Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies; CHARGE association; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008965; MedGen: C0265354; Orphanet: 138; OMIM: 214800
-
603494 (1)
OMIM
-
RecName: Full=Mitogen-activated protein kinase kinase kinase 7; AltName: Full=Tr...
RecName: Full=Mitogen-activated protein kinase kinase kinase 7; AltName: Full=Transforming growth factor-beta-activated kinase 1; Short=TGF-beta-activated kinase 1gi|12643557|sp|O43318.1|M3K7_HUMANProtein
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Last Updated: Oct 13, 2024