rs751224730
This variant is located in the LRMDA gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout LRMDA
This gene encodes a leucine-rich repeat protein. The encoded protein is thought to play a role in melanocyte differentiation. Mutations in this gene have been associated with autosomal recessive oculocutaneous albinism 7 (OCA7). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
View all LRMDA variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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