Variant (rsID / SNP)

rs145790362

rs145790362 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MECP2. Clinical significance in the table: Likely benign.

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Reference-table entries

MECP2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln)
Allele change: Missense_R478Q

Associated conditions / phenotypes

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