Variant (rsID / SNP)
rs761357250
rs761357250 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATF6. Location: chromosome 1, position 161,789,483. Clinical significance in the table: Pathogenic.
Reference-table entries
ATF6Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:161789483
- Cytoband
- 1q23.3
- HGVS
- NM_007348.4(ATF6):c.970C>T (p.Arg324Cys)
- Allele change
- Missense_R324C
Associated conditions / phenotypes
Achromatopsia 7
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.