Variant (rsID / SNP)

rs267608615

rs267608615 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MECP2. Clinical significance in the table: Pathogenic.

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Reference-table entries

MECP2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Cytoband: Xq28
HGVS: NM_001110792.2(MECP2):c.1250_1266del (p.Pro417fs)

Associated conditions / phenotypes

Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett 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.