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Variant profile

c.1511G>C

c.1511G>C · SaudiVarKB evidence summary derived from retained literature mentions.

1Variant mentions
1Publications
1Associated gene records
2Associated phenotype records

Associated gene records

Co-mentioned in the same publications
GeneIdentifier / contextArticlesMentions
ALKBH8HGNC:2518911

Associated phenotype records

Co-mentioned in the same publications
PhenotypeIdentifier / contextArticlesMentions
intellectual disabilityHP:000124911
developmental delayHP:000126311

Associated population records

Co-mentioned in the same publications

No retained population associations.

Supporting publications

1 records
  1. 2022Case Report: Biallelic Variant in the tRNA Methyltransferase Domain of the AlkB Homolog 8 Causes Syndromic Intellectual Disability.Frontiers in geneticsPubMed ↗