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Variant (rsID / SNP)

rs34067949

RPGRIP1

rs34067949 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPGRIP1. Location: chromosome 14, position 21,792,781. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

RPGRIP1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
14:21792781
Cytoband
14q11.2
HGVS
NM_020366.4(RPGRIP1):c.1767G>T (p.Gln589His)
Allele change
Missense_Q589H

Associated conditions / phenotypes

Leber congenital amaurosis 6|Cone-rod dystrophy 13|Leber congenital amaurosis 6|Cone-rod dystrophy 13

Public references

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