Variant (rsID / SNP)

rs61753965

rs61753965 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: single nucleotide variant
Cytoband: Xq28
HGVS: NM_001110792.2(MECP2):c.1252C>T (p.Gln418Ter)
Allele change: Nonsense_Q406X

Associated conditions / phenotypes

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