NM_017780.4(CHD7):c.6034G>A (p.Glu2012Lys) AND CHARGE syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001070088.5
Allele description [Variation Report for NM_017780.4(CHD7):c.6034G>A (p.Glu2012Lys)]
NM_017780.4(CHD7):c.6034G>A (p.Glu2012Lys)
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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C-type lectin domain family 17, member A isoform X1 [Homo sapiens]
C-type lectin domain family 17, member A isoform X1 [Homo sapiens]gi|1034607878|ref|XP_016882274.1|Protein
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Homologene neighbors for GEO Profiles (Select 125841063) (0)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 125845913) (200)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 125828584) (200)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 125840679) (200)
GEO Profiles
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Last Updated: Jun 2, 2024