Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs104893712

CASR

rs104893712 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASR. Location: chromosome 3, position 122,002,611. Clinical significance in the table: Pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CASRPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
3:122002611
Cytoband
3q21.1
HGVS
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys)
Allele change
Missense_E604K

Associated conditions / phenotypes

Autosomal dominant hypocalcemia 1|Autosomal dominant hypocalcemia|Familial hypocalciuric hypercalcemia|Autosomal dominant hypocalcemia 1

Public references

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