NM_017780.4(CHD7):c.4644+17A>G AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 27, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002494189.1
Allele description [Variation Report for NM_017780.4(CHD7):c.4644+17A>G]
NM_017780.4(CHD7):c.4644+17A>G
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
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3830403N01Rik RIKEN cDNA 3830403N01 gene [Mus musculus]
3830403N01Rik RIKEN cDNA 3830403N01 gene [Mus musculus]Gene ID:76852Gene
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NAC066 NAC domain protein 66 [Arabidopsis thaliana]
NAC066 NAC domain protein 66 [Arabidopsis thaliana]Gene ID:825364Gene
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825364[uid] AND (alive[prop]) (1)
Gene
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CBXT5826.b1 NICHD_XGC_trop_25 Xenopus tropicalis cDNA clone IMAGE:8887819 5', mR...
CBXT5826.b1 NICHD_XGC_trop_25 Xenopus tropicalis cDNA clone IMAGE:8887819 5', mRNA sequencegi|133811201|gnl|dbEST|45240808|gb| 848.1|Nucleotide
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AGENCOURT_15065561 NICHD_XGC_Emb8 Xenopus tropicalis cDNA clone IMAGE:6982221 3'...
AGENCOURT_15065561 NICHD_XGC_Emb8 Xenopus tropicalis cDNA clone IMAGE:6982221 3', mRNA sequencegi|33426538|gnl|dbEST|19439676|gb|C 34.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024