NM_017780.4(CHD7):c.5211-3del AND CHARGE syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 23, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001408169.15
Allele description [Variation Report for NM_017780.4(CHD7):c.5211-3del]
NM_017780.4(CHD7):c.5211-3del
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
-
transaldolase [Listeria monocytogenes]
transaldolase [Listeria monocytogenes]gi|1002044038|gb|KXS85159.1||gnl|WG X|AWI72_12730Protein
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Last Updated: Oct 13, 2024