Variant (rsID / SNP)

rs121907914

rs121907914 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAX6. Location: chromosome 11, position 31,823,159. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PAX6Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:31823159
Cytoband: 11p13
HGVS: NM_001368894.2(PAX6):c.349C>T (p.Arg117Ter)
Allele change: Silent

Associated conditions / phenotypes

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

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.