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Variant (rsID / SNP)

rs193922423

CASR

rs193922423 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASR. Location: chromosome 3, position 121,994,806. 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
single nucleotide variant
Chromosome / position
3:121994806
Cytoband
3q21.1
HGVS
NM_000388.4(CASR):c.1525G>A (p.Gly509Arg)
Allele change
Missense_G509R

Associated conditions / phenotypes

Familial hypocalciuric hypercalcemia|Autosomal dominant hypocalcemia 1|Familial hypocalciuric hypercalcemia

Public references

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