Variant (rsID / SNP)

rs76048775

rs76048775 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IMPG2. Location: chromosome 3, position 100,962,744. 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: 3:100962744
Cytoband: 3q12.3
HGVS: NM_016247.4(IMPG2):c.2431T>G (p.Ser811Ala)
Allele change: Missense_S811A

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.