Variant (rsID / SNP)

rs121907917

rs121907917 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAX6. Location: chromosome 11, position 31,815,627. Clinical significance in the table: Pathogenic.

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Reference-table entries

PAX6Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:31815627
Cytoband: 11p13
HGVS: NM_001368894.2(PAX6):c.760C>T (p.Arg254Ter)
Allele change: Nonsense_R104X

Associated conditions / phenotypes

Aniridia 1|Aniridia 1|Irido-corneo-trabecular dysgenesis

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.