Variant (rsID / SNP)

rs797045174

rs797045174 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATF6. Location: chromosome 1, position 161,790,872. Clinical significance in the table: Pathogenic.

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Reference-table entries

ATF6Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Chromosome / position: 1:161790872
Cytoband: 1q23.3
HGVS: NM_007348.4(ATF6):c.1110dup (p.Val371fs)

Associated conditions / phenotypes

Achromatopsia 7

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.