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Gene profile

SLC30A10

HGNC:25355 · SaudiVarKB evidence summary derived from retained literature mentions.

2Gene mentions
2Publications
4Linked variants
1Associated phenotypes

Associated phenotypes

Co-mentioned in SLC30A10 publications
PhenotypeIdentifierArticlesMentions
neurodevelopmental disorderHP:001275911

Linked variants

Variants normalized to SLC30A10
VariantHGVS / rsIDArticlesMentions
137C>A11
p.Ser46Tyrp.Ser46Tyr11
c.266T>Cc.266T>C11
p.L89Pp.L89P11

Population context

Reported in the same publications
Country / regionGroupCohortArticles
Saudi Arabia1
Not specified1

Supporting publications

2 records
  1. 2024Exome Sequence Analysis to Characterize Undiagnosed Family Segregating Motor Impairment and Dystonia.Journal of clinical medicinePubMed ↗
  2. 2024Hypermagnesemia with Dystonia Type 2: Case Report of a New SLC30A10 Variant.Journal of pharmacy & bioallied sciencesPubMed ↗