NM_017780.4(CHD7):c.6335C>T (p.Thr2112Met) AND CHARGE syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001469662.6
Allele description [Variation Report for NM_017780.4(CHD7):c.6335C>T (p.Thr2112Met)]
NM_017780.4(CHD7):c.6335C>T (p.Thr2112Met)
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 arrestin beta 2 (ARRB2), transcript variant 2, mRNA
Homo sapiens arrestin beta 2 (ARRB2), transcript variant 2, mRNAgi|1675100279|ref|NM_199004.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 2, 2024