Variant (rsID / SNP)

rs61748396

rs61748396 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: single nucleotide variant
Cytoband: Xq28
HGVS: NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter)
Allele change: Nonsense_Y141X

Associated conditions / phenotypes

Atypical Rett syndrome|Angelman syndrome|Rett syndrome|Inborn genetic diseases|Severe neonatal-onset encephalopathy with microcephaly

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.