NM_017780.4(CHD7):c.7797T>A (p.Pro2599=) AND CHARGE syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jul 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002756327.3
Allele description [Variation Report for NM_017780.4(CHD7):c.7797T>A (p.Pro2599=)]
NM_017780.4(CHD7):c.7797T>A (p.Pro2599=)
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
-
714873[uid] (1)
Taxonomy
-
Pathogen: environmental/food/other sample from Bacillus cereus
Pathogen: environmental/food/other sample from Bacillus cereusbiosample
-
Pathogen: environmental/food/other sample from Bacillus pseudomycoides
Pathogen: environmental/food/other sample from Bacillus pseudomycoidesbiosample
-
Bacillus cereus strain FSL W8-0050, whole genome shotgun sequencing project
Bacillus cereus strain FSL W8-0050, whole genome shotgun sequencing projectgi|1003890976|gb|LOMR00000000.1|LOM 0000Nucleotide
-
2OG-Fe(II) oxygenase superfamily protein [Micavibrio aeruginosavorus ARL-13]
2OG-Fe(II) oxygenase superfamily protein [Micavibrio aeruginosavorus ARL-13]gi|347591638|gnl|IGS|MICA_2378|gb|A 80.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024