rs117149407
This variant is located in the EYA1 gene.
▶ClinVar annotation
not specified; Otofaciocervical syndrome 1; Branchiootic syndrome 1; not provided; Melnick-Fraser syndrome; Uterine carcinosarcoma; Acute myeloid leukemia; Ovarian serous cystadenocarcinoma; Thymoma; Malignant tumor of esophagus; Ovarian cancer; Clear cell carcinoma of kidney; Familial pancreatic carcinoma; Sarcoma
View on ClinVar →About EYA1
This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013]
View all EYA1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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