NM_017780.4(CHD7):c.6236A>C (p.Lys2079Thr) AND CHARGE syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Nov 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000808593.5
Allele description [Variation Report for NM_017780.4(CHD7):c.6236A>C (p.Lys2079Thr)]
NM_017780.4(CHD7):c.6236A>C (p.Lys2079Thr)
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
-
Homo sapiens mRNA for cardiac potassium channel subunit (Kv6.2)
Homo sapiens mRNA for cardiac potassium channel subunit (Kv6.2)gi|6006492|emb|AJ011021.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024