Variant (rsID / SNP)

rs122445112

rs122445112 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATRX. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ATRXPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq21.1
HGVS: NM_000489.6(ATRX):c.6811A>G (p.Arg2271Gly)
Allele change: Missense_R2271G

Associated conditions / phenotypes

Intellectual disability-hypotonic facies syndrome, X-linked

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.