Variant (rsID / SNP)

rs61754426

rs61754426 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MECP2. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MECP2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Cytoband: Xq28
HGVS: NM_001110792.2(MECP2):c.112del (p.Leu38fs)

Associated conditions / phenotypes

Rett syndrome|X-linked intellectual disability-psychosis-macroorchidism 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.