Variant (rsID / SNP)

rs186279271

rs186279271 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASR. Location: chromosome 3, position 122,001,019. Clinical significance in the table: Likely benign.

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Reference-table entries

CASRLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:122001019
Cytoband: 3q21.1
HGVS: NM_000388.4(CASR):c.1668G>A (p.Glu556=)
Allele change: Synonymous_E556E

Associated conditions / phenotypes

Autosomal dominant hypocalcemia 1|Familial hypocalciuric hypercalcemia

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.