Variant (rsID / SNP)

rs1946155

rs1946155 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPGRIP1L. Location: chromosome 16, position 53,634,295. Clinical significance in the table: Benign.

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Reference-table entries

RPGRIP1LBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:53634295
Cytoband: 16q12.2
HGVS: NM_015272.5(RPGRIP1L):c.*1693G>A
Allele change: Silent

Associated conditions / phenotypes

Meckel syndrome, type 5|Nephronophthisis 8|Joubert syndrome 7

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.