Variant (rsID / SNP)

rs199867882

rs199867882 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IMPG2. Location: chromosome 3, position 100,949,961. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

IMPG2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:100949961
Cytoband: 3q12.3
HGVS: NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter)
Allele change: Nonsense_R1088X

Associated conditions / phenotypes

Retinitis pigmentosa|Retinal dystrophy|Autosomal recessive retinitis pigmentosa|Vitelliform macular dystrophy 5

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.