rs730882156

This is a variant in the KITLG gene that changes a valine to an alanine.

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ClinVar annotation

Pathogenic

1 submitter2 publications

Hyperpigmentation with or without hypopigmentation, familial progressive

About KITLG

This gene encodes the ligand of the tyrosine-kinase receptor encoded by the KIT locus. This ligand is a pleiotropic factor that acts in utero in germ cell and neural cell development, and hematopoiesis, all believed to reflect a role in cell migration. In adults, it functions pleiotropically, while mostly noted for its continued requirement in hematopoiesis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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