Variant (rsID / SNP)

rs281865175

rs281865175 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRB1. Location: chromosome 1, position 197,446,906. Clinical significance in the table: Pathogenic.

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Reference-table entries

CRB1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 1:197446906
Cytoband: 1q31.3
HGVS: NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs)

Associated conditions / phenotypes

Retinitis pigmentosa 12|Leber congenital amaurosis 8|Leber congenital amaurosis|Retinitis pigmentosa 12|Leber congenital amaurosis 8

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.