Variant (rsID / SNP)

rs193922426

rs193922426 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASR. Location: chromosome 3, position 122,001,036. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CASRLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:122001036
Cytoband: 3q21.1
HGVS: NM_000388.4(CASR):c.1685G>C (p.Cys562Ser)
Allele change: Missense_C562S

Associated conditions / phenotypes

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.