Variant (rsID / SNP)

rs116804195

rs116804195 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLDN19. Location: chromosome 1, position 43,201,576. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CLDN19Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:43201576
Cytoband: 1p34.2
HGVS: NM_148960.3(CLDN19):c.599G>A (p.Arg200Gln)
Allele change: Missense_R200Q

Associated conditions / phenotypes

Renal hypomagnesemia 5 with ocular involvement

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.