NM_017780.4(CHD7):c.4636A>C (p.Asn1546His) AND CHARGE syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003602966.2
Allele description [Variation Report for NM_017780.4(CHD7):c.4636A>C (p.Asn1546His)]
NM_017780.4(CHD7):c.4636A>C (p.Asn1546His)
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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Talaromyces stipitatus ATCC 10500 MFS multidrug transporter, putative (TSTA_069720), mRNAgi|242765271|ref|XM_002340900.1|Nucleotide
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Homo sapiens signal peptide peptidase-like 2B, mRNA (cDNA clone MGC:2606 IMAGE:3...
Homo sapiens signal peptide peptidase-like 2B, mRNA (cDNA clone MGC:2606 IMAGE:3352341), complete cdsgi|12804714|gb|BC001788.1|Nucleotide
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Homo sapiens zinc finger and BTB domain containing 17, mRNA (cDNA clone MGC:1614...
Homo sapiens zinc finger and BTB domain containing 17, mRNA (cDNA clone MGC:161441 IMAGE:8991879), complete cdsgi|116497116|gb|BC126163.1|Nucleotide
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Last Updated: Sep 29, 2024