NM_017780.4(CHD7):c.1666-16T>C AND CHARGE syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003499507.2
Allele description [Variation Report for NM_017780.4(CHD7):c.1666-16T>C]
NM_017780.4(CHD7):c.1666-16T>C
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
-
At.66953 AND (alive[prop]) (2)
Gene
-
Rattus norvegicus cullin-associated and neddylation-dissociated 2 (putative) (Ca...
Rattus norvegicus cullin-associated and neddylation-dissociated 2 (putative) (Cand2), mRNAgi|1937912636|ref|NM_181362.2|Nucleotide
-
AGENCOURT_87456637 NICHD_XGC_panc Xenopus laevis cDNA clone IMAGE:8734863 3', mR...
AGENCOURT_87456637 NICHD_XGC_panc Xenopus laevis cDNA clone IMAGE:8734863 3', mRNA sequencegi|111601729|gnl|dbEST|40942470|gb| 024.1|Nucleotide
-
OT_ostta13g03090 [Ostreococcus tauri]
OT_ostta13g03090 [Ostreococcus tauri]Gene ID:34946351Gene
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Last Updated: Sep 29, 2024