Variant (rsID / SNP)

rs61748404

rs61748404 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.491C>G (p.Pro164Arg)
Allele change: Missense_P152R

Associated conditions / phenotypes

Rett syndrome|Severe neonatal-onset encephalopathy with microcephaly|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.