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Variant (rsID / SNP)

rs121918197

RPGRIP1L

rs121918197 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPGRIP1L. Location: chromosome 16, position 53,720,424. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RPGRIP1LConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:53720424
Cytoband
16q12.2
HGVS
NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter)
Allele change
Nonsense_K233X

Associated conditions / phenotypes

Joubert syndrome 7|RPGRIP1L-Related Disorders|Joubert syndrome|Meckel-Gruber syndrome|Joubert syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.