NM_012431.3(SEMA3E):c.2133G>T (p.Lys711Asn) AND CHARGE association
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 1, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000800132.3
Allele description
NM_012431.3(SEMA3E):c.2133G>T (p.Lys711Asn)
Condition(s)
- Name:
- CHARGE association (CHARGE)
- Synonyms:
- CHARGE ASSOCIATION--COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES; CHARGE syndrome; Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008965; MedGen: C0265354; Orphanet: 138; OMIM: 214800
-
rs9924150 (0)
ClinVar
-
SRX3091905 (1)
SRA
-
hypothetical protein Pf1_00013 [Pseudomonas phage Pf1 ERZ-2017]
hypothetical protein Pf1_00013 [Pseudomonas phage Pf1 ERZ-2017]gi|1308011797|gb|AUE23192.1|Protein
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See more...Assertion and evidence details
Last Updated: Apr 23, 2022