Variant (rsID / SNP)

rs193922424

rs193922424 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASR. Location: chromosome 3, position 121,973,201. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CASRPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Deletion
Chromosome / position: 3:121973201
Cytoband: 3q21.1
HGVS: NM_000388.4(CASR):c.166del (p.Glu56fs)

Associated conditions / phenotypes

Familial hypocalciuric hypercalcemia|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.