Variant (rsID / SNP)
rs122445105
rs122445105 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATRX. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
ATRXPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Cytoband
- Xq21.1
- HGVS
- NM_000489.6(ATRX):c.736C>T (p.Arg246Cys)
- Allele change
- Missense_R246C
Associated conditions / phenotypes
Inborn genetic diseases|Alpha thalassemia-X-linked intellectual disability syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1|Acquired hemoglobin H disease|Alpha thalassemia-X-linked intellectual disability syndrome|Renier-Gabreels-Jasper syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.