Variant (rsID / SNP)

rs111940781

rs111940781 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SHROOM4. Clinical significance in the table: Benign.

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Reference-table entries

SHROOM4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xp11.22
HGVS: NM_020717.5(SHROOM4):c.439C>T (p.His147Tyr)
Allele change: Missense_H147Y

Associated conditions / phenotypes

History of neurodevelopmental disorder

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.