Variant (rsID / SNP)

rs193922435

rs193922435 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASR. Location: chromosome 3, position 122,003,236. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

CASRLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:122003236
Cytoband: 3q21.1
HGVS: NM_000388.4(CASR):c.2435T>C (p.Leu812Pro)
Allele change: Missense_L812P

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.