Variant (rsID / SNP)

rs122445103

rs122445103 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATRX. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ATRXLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xq21.1
HGVS: NM_000489.6(ATRX):c.568C>G (p.Pro190Ala)
Allele change: Missense_P190A

Associated conditions / phenotypes

Alpha thalassemia-X-linked intellectual disability syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1|Alpha thalassemia-X-linked intellectual disability syndrome

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.