Variant (rsID / SNP)

rs121909269

rs121909269 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASR. Location: chromosome 3, position 122,003,494. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CASRUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:122003494
Cytoband: 3q21.1
HGVS: NM_000388.4(CASR):c.2693G>A (p.Arg898Gln)
Allele change: Missense_R898Q

Associated conditions / phenotypes

Epilepsy, idiopathic generalized, susceptibility to, 8|Familial hypocalciuric hypercalcemia|Autosomal dominant hypocalcemia 1

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.