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Variant (rsID / SNP)

rs201177696

CASR

rs201177696 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASR. Location: chromosome 3, position 121,981,074. 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
3:121981074
Cytoband
3q21.1
HGVS
NM_000388.4(CASR):c.1192G>A (p.Asp398Asn)
Allele change
Missense_D398N

Associated conditions / phenotypes

Inborn genetic diseases|Autosomal dominant hypocalcemia 1|Familial hypocalciuric hypercalcemia|Hereditary cancer-predisposing syndrome

Public references

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