Variant (rsID / SNP)

rs3796129

rs3796129 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RNF168. Location: chromosome 3, position 196,199,204. Clinical significance in the table: Benign.

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Reference-table entries

RNF168Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:196199204
Cytoband: 3q29
HGVS: NM_152617.4(RNF168):c.1202C>A (p.Pro401Gln)
Allele change: Missense_P401Q

Associated conditions / phenotypes

RIDDLE syndrome

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.