Variant (rsID / SNP)

rs727504064

rs727504064 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAX6. Location: chromosome 11, position 31,823,316. 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: 11:31823316
Cytoband: 11p13
HGVS: NM_001368894.2(PAX6):c.192C>A (p.Asn64Lys)
Allele change: Silent

Associated conditions / phenotypes

Anophthalmia-microphthalmia syndrome

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.