Variant (rsID / SNP)

rs104893705

rs104893705 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASR. Location: chromosome 3, position 122,002,743. 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: 3:122002743
Cytoband: 3q21.1
HGVS: NM_000388.4(CASR):c.1942C>T (p.Arg648Ter)
Allele change: Nonsense_R648X

Associated conditions / phenotypes

Familial hypocalciuric hypercalcemia 1|Neonatal severe primary hyperparathyroidism|Inborn genetic diseases

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.