Variant (rsID / SNP)

rs116450347

rs116450347 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IMPG2. Location: chromosome 3, position 100,951,820. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

IMPG2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 3:100951820
Cytoband: 3q12.3
HGVS: NM_016247.4(IMPG2):c.3038C>T (p.Pro1013Leu)
Allele change: Missense_P1013L

Associated conditions / phenotypes

Retinitis pigmentosa

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.