Variant (rsID / SNP)

rs151174849

rs151174849 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPGRIP1L. Location: chromosome 16, position 53,720,354. Clinical significance in the table: Uncertain significance.

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Reference-table entries

RPGRIP1LUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 16:53720354
Cytoband: 16q12.2
HGVS: NM_015272.5(RPGRIP1L):c.767C>T (p.Thr256Ile)
Allele change: Missense_T256I

Associated conditions / phenotypes

Joubert syndrome|Meckel-Gruber syndrome|COACH syndrome 1|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.