Variant (rsID / SNP)

rs73016324

rs73016324 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP164. Location: chromosome 11, position 117,281,566. Clinical significance in the table: Benign.

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Reference-table entries

CEP164Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:117281566
Cytoband: 11q23.3
HGVS: NM_014956.5(CEP164):c.4119C>T (p.Asn1373=)
Allele change: Synonymous_N1368N

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.