NM_017780.4(CHD7):c.1735C>G (p.Gln579Glu) AND CHARGE syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003497958.1
Allele description [Variation Report for NM_017780.4(CHD7):c.1735C>G (p.Gln579Glu)]
NM_017780.4(CHD7):c.1735C>G (p.Gln579Glu)
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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talin-1 isoform X1 [Mus musculus]
talin-1 isoform X1 [Mus musculus]gi|1720408138|ref|XP_006537831.3|Protein
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uncharacterized protein LOC105256603 [Camponotus floridanus]
uncharacterized protein LOC105256603 [Camponotus floridanus]gi|752893664|ref|XP_011264983.1|Protein
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Arabidopsis thaliana S-adenosyl-L-methionine-dependent methyltransferases superf...
Arabidopsis thaliana S-adenosyl-L-methionine-dependent methyltransferases superfamily protein (AT1G08125), mRNAgi|1063681502|ref|NM_202062.3|Nucleotide
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Last Updated: Jun 2, 2024