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Variant (rsID / SNP)

rs121907922

PAX6

rs121907922 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAX6. Location: chromosome 11, position 31,811,483. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PAX6Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:31811483
Cytoband
11p13
HGVS
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)
Allele change
Missense_X287L

Associated conditions / phenotypes

Aniridia 1|8 conditions|Visual impairment|Hypertelorism|Nystagmus|Irido-corneo-trabecular dysgenesis|Aniridia 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.