Variant (rsID / SNP)

rs193922679

rs193922679 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MECP2. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

MECP2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_001110792.2(MECP2):c.610A>T (p.Lys204Ter)
Allele change: Nonsense_K192X

Associated conditions / phenotypes

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.