Variant (rsID / SNP)

rs145665129

rs145665129 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPGRIP1L. Location: chromosome 16, position 53,679,807. Clinical significance in the table: Pathogenic.

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Reference-table entries

RPGRIP1LPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:53679807
Cytoband: 16q12.2
HGVS: NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter)
Allele change: Nonsense_R805X

Associated conditions / phenotypes

COACH syndrome 3|Joubert syndrome 7|Joubert syndrome|Meckel-Gruber syndrome|Joubert 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.