rs754953018

This variant is located in the CHD7 gene.

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ClinVar annotation

Likely Benign★★★☆
4 submitters2 publications

CHARGE syndrome; not provided; CHARGE syndrome;Hypogonadotropic hypogonadism 5 with or without anosmia; Inborn genetic diseases

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About CHD7

This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

View all CHD7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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