Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs193922432

CASR

rs193922432 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASR. Location: chromosome 3, position 121,975,948. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CASRConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:121975948
Cytoband
3q21.1
HGVS
NM_000388.4(CASR):c.206G>A (p.Arg69His)
Allele change
Missense_R69H

Associated conditions / phenotypes

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

Public references

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