Variant (rsID / SNP)

rs148773489

rs148773489 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPGRIP1L. Location: chromosome 16, position 53,639,483. Clinical significance in the table: Likely benign.

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Reference-table entries

RPGRIP1LLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:53639483
Cytoband: 16q12.2
HGVS: NM_015272.5(RPGRIP1L):c.3745G>T (p.Asp1249Tyr)
Allele change: Missense_D1169Y

Associated conditions / phenotypes

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.