Variant (rsID / SNP)

rs201893545

rs201893545 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IMPG2. Location: chromosome 3, position 101,023,121. Clinical significance in the table: Uncertain significance.

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Reference-table entries

IMPG2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:101023121
Cytoband: 3q12.3
HGVS: NM_016247.4(IMPG2):c.370T>C (p.Phe124Leu)
Allele change: Missense_F124L

Associated conditions / phenotypes

Vitelliform macular dystrophy 5|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.