Variant (rsID / SNP)

rs61748420

rs61748420 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MECP2. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MECP2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp)
Allele change: Missense_R167W

Associated conditions / phenotypes

X-linked intellectual disability-psychosis-macroorchidism syndrome|Rett syndrome|Severe neonatal-onset encephalopathy with microcephaly|See cases

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.