Variant (rsID / SNP)

rs11863101

rs11863101 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPGRIP1L. Location: chromosome 16, position 53,672,338. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

RPGRIP1LBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:53672338
Cytoband: 16q12.2
HGVS: NM_015272.5(RPGRIP1L):c.2959-15T>C
Allele change: Silent

Associated conditions / phenotypes

Meckel syndrome, type 5|Joubert syndrome 7|Nephronophthisis 8|Joubert syndrome|Meckel-Gruber 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.