Variant (rsID / SNP)

rs571391

rs571391 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IMPG2. Location: chromosome 3, position 100,963,154. Clinical significance in the table: Benign.

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Reference-table entries

IMPG2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:100963154
Cytoband: 3q12.3
HGVS: NM_016247.4(IMPG2):c.2021C>T (p.Thr674Ile)
Allele change: Missense_T674I

Associated conditions / phenotypes

Retinitis pigmentosa|Vitelliform macular dystrophy 5|Retinitis pigmentosa 56

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.