Variant (rsID / SNP)

rs886041481

rs886041481 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IQSEC2. Clinical significance in the table: Pathogenic.

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Reference-table entries

IQSEC2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Cytoband: Xp11.22
HGVS: NM_001111125.3(IQSEC2):c.804del (p.Tyr269fs)

Associated conditions / phenotypes

Severe intellectual deficiency|Intellectual disability, X-linked 1|Inborn genetic diseases

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.