Variant (rsID / SNP)

rs189694750

rs189694750 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SHROOM4. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SHROOM4Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xp11.22
HGVS: NM_020717.5(SHROOM4):c.436C>T (p.Arg146Trp)
Allele change: Missense_R146W

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.