Variant (rsID / SNP)

rs267608388

rs267608388 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MECP2. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MECP2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys)
Allele change: Missense_R115C

Associated conditions / phenotypes

History of neurodevelopmental disorder|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.