NM_017780.4(CHD7):c.5124G>C (p.Gln1708His) AND CHARGE syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003604650.2
Allele description [Variation Report for NM_017780.4(CHD7):c.5124G>C (p.Gln1708His)]
NM_017780.4(CHD7):c.5124G>C (p.Gln1708His)
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
-
DNA glycosylase superfamily protein [Arabidopsis thaliana]
DNA glycosylase superfamily protein [Arabidopsis thaliana]gi|42572315|ref|NP_974253.1|Protein
-
Homo sapiens glutathione S-transferase mu 1 (GSTM1), transcript variant 2, mRNA
Homo sapiens glutathione S-transferase mu 1 (GSTM1), transcript variant 2, mRNAgi|1675017275|ref|NM_146421.3|Nucleotide
-
Homo sapiens glutathione S-transferase mu 1 (GSTM1), RefSeqGene on chromosome 1
Homo sapiens glutathione S-transferase mu 1 (GSTM1), RefSeqGene on chromosome 1gi|219521909|ref|NG_009246.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024