Gene entry
CASK
calcium/calmodulin dependent serine protein kinase
- Chromosome
- X
- Cytoband
- Xp11.4
- Variants (rsID)
- 43
CASK is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xp11.4). Its official name is “calcium/calmodulin dependent serine protein kinase”. The reference table lists 43 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs141158465Benignsingle nucleotide variantIntellectual disability, CASK-related, X-linked|History of neurodevelopmental disorder
- rs546044640Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Intellectual disability, CASK-related, X-linked
- rs137852820Conflicting interpretationssingle nucleotide variantAnemia, nonspherocytic hemolytic, due to G6PD deficiency|FG syndrome 4|Syndromic X-linked intellectual disability Najm type|Intellectual disability, CASK-related, X-linked
- rs587783370Conflicting interpretationssingle nucleotide variantSyndromic X-linked intellectual disability Najm type|Intellectual disability, CASK-related, X-linked|FG syndrome 4
- rs76106850Conflicting interpretationssingle nucleotide variantIntellectual disability, CASK-related, X-linked
- rs1023065Likely benignsingle nucleotide variant
- rs137852815Pathogenicsingle nucleotide variantSyndromic X-linked intellectual disability Najm type
- rs17315800Uncertain significancesingle nucleotide variantSyndromic X-linked intellectual disability Najm type
Other listed variants
- rs444787
- rs1195388
- rs1195392
- rs2244325
- rs2998250
- rs3013140
- rs3203642
- rs5917432
- rs5918201
- rs5918209
- rs5918213
- rs5918221
- rs5918245
- rs5918263
- rs5918265
- rs5918267
- rs6609159
- rs6610619
- rs7062185
- rs17260164
- rs17315891
- rs34736295
- rs35231485
- rs41305751
- rs62587035
- rs73472508
- rs138146689
- rs138485576
- rs139216534
- rs140841051
- rs141052964
- rs143173861
- rs145644865
- rs146820611
- rs367796547
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.