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Variant (rsID / SNP)

rs61751444

MECP2

rs61751444 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.961C>T (p.Arg321Trp)
Allele change
Missense_R309W

Associated conditions / phenotypes

Autism, susceptibility to, X-linked 3|Rett syndrome|X-linked intellectual disability-psychosis-macroorchidism syndrome|Inborn genetic diseases|Intellectual disability|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.