Variant (rsID / SNP)

rs117083334

rs117083334 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP164. Location: chromosome 11, position 117,252,437. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CEP164Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:117252437
Cytoband: 11q23.3
HGVS: NM_014956.5(CEP164):c.1430A>G (p.His477Arg)
Allele change: Missense_H480R

Associated conditions / phenotypes

Nephronophthisis 15

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.