Variant (rsID / SNP)

rs104893861

rs104893861 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PITX2. Location: chromosome 4, position 111,542,366. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PITX2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:111542366
Cytoband: 4q25
HGVS: NM_000325.6(PITX2):c.365G>A (p.Arg122His)
Allele change: Missense_R115H

Associated conditions / phenotypes

Anterior segment dysgenesis 4

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.