Variant (rsID / SNP)

rs28936684

rs28936684 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASR. Location: chromosome 3, position 121,980,562. 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: 3:121980562
Cytoband: 3q21.1
HGVS: NM_000388.4(CASR):c.680G>T (p.Arg227Leu)
Allele change: Missense_R227L

Associated conditions / phenotypes

Neonatal severe primary hyperparathyroidism|Familial hypocalciuric hypercalcemia|Autosomal dominant hypocalcemia 1

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.