Variant (rsID / SNP)

rs118203918

rs118203918 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CILK1. Location: chromosome 6, position 52,880,897. Clinical significance in the table: Pathogenic.

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Reference-table entries

CILK1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:52880897
Cytoband: 6p12.1
HGVS: NM_014920.5(CILK1):c.815G>A (p.Arg272Gln)
Allele change: Missense_R272Q

Associated conditions / phenotypes

Endocrine-cerebro-osteodysplasia syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.