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Variant (rsID / SNP)

rs61748427

MECP2

rs61748427 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.553C>G (p.Pro185Ala)
Allele change
Missense_P173A

Associated conditions / phenotypes

Rett syndrome|X-linked intellectual disability-psychosis-macroorchidism syndrome|Autism, susceptibility to, X-linked 3|Severe neonatal-onset encephalopathy with microcephaly|Syndromic X-linked intellectual disability Lubs type|Rett syndrome|Severe neonatal-onset encephalopathy with microcephaly

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.