Variant (rsID / SNP)

rs144727288

rs144727288 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SHROOM4. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SHROOM4Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xp11.22
HGVS: NM_020717.5(SHROOM4):c.2192A>G (p.Glu731Gly)
Allele change: Missense_E731G

Associated conditions / phenotypes

X-linked intellectual disability, Stocco dos Santos 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.