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Variant (rsID / SNP)

rs116711473

EOGT

rs116711473 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EOGT. Location: chromosome 3, position 69,053,587. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

EOGTConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:69053587
Cytoband
3p14.1
HGVS
NM_001278689.2(EOGT):c.562A>T (p.Lys188Ter)
Allele change
Silent

Associated conditions / phenotypes

Adams-Oliver syndrome 4

Public references

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