Variant (rsID / SNP)

rs61750249

rs61750249 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MECP2. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MECP2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_001110792.2(MECP2):c.872C>T (p.Ala291Val)
Allele change: Missense_A279V

Associated conditions / phenotypes

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