Variant (rsID / SNP)

rs185181819

rs185181819 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EOGT. Location: chromosome 3, position 69,027,587. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

EOGTPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:69027587
Cytoband: 3p14.1
HGVS: NM_001278689.2(EOGT):c.1335-1G>A
Allele change: Silent

Associated conditions / phenotypes

Adams-Oliver syndrome 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.