rs372672996

This variant is located in the LAT2 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About LAT2

This gene is one of the contiguous genes at 7q11.23 commonly deleted in Williams syndrome, a multisystem developmental disorder. This gene consists of at least 14 exons, and its alternative splicing generates 3 transcript variants, all encoding the same protein. [provided by RefSeq, Jul 2008]

View all LAT2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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