Variant (rsID / SNP)

rs61751370

rs61751370 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.934G>A (p.Val312Ile)
Allele change: Missense_V300I

Associated conditions / phenotypes

Rett syndrome|Autism, susceptibility to, X-linked 3|Syndromic X-linked intellectual disability Lubs type

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.