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Variant (rsID / SNP)

rs193922433

CASR

rs193922433 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASR. Location: chromosome 3, position 122,003,044. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CASRConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:122003044
Cytoband
3q21.1
HGVS
NM_000388.4(CASR):c.2243C>A (p.Pro748Gln)
Allele change
Missense_P748Q

Associated conditions / phenotypes

Familial hypocalciuric hypercalcemia|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.