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Variant (rsID / SNP)

rs121909260

CASR

rs121909260 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASR. Location: chromosome 3, position 121,976,122. Clinical significance in the table: Pathogenic.

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Reference-table entries

CASRPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
3:121976122
Cytoband
3q21.1
HGVS
NM_000388.4(CASR):c.380A>C (p.Glu127Ala)
Allele change
Missense_E127G

Associated conditions / phenotypes

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

Public references

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