Variant (rsID / SNP)

rs199422240

rs199422240 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZNF711. Clinical significance in the table: Pathogenic.

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Reference-table entries

ZNF711Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq21.1
HGVS: NM_001330574.2(ZNF711):c.1711A>T (p.Arg571Ter)
Allele change: Nonsense_R571X

Associated conditions / phenotypes

Intellectual disability, X-linked 97

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.