Variant (rsID / SNP)

rs142085721

rs142085721 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRWD3. Clinical significance in the table: Benign.

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Reference-table entries

BRWD3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xq21.1
HGVS: NM_153252.5(BRWD3):c.597A>C (p.Ser199=)
Allele change: Synonymous_S199S

Associated conditions / phenotypes

Intellectual disability, X-linked 93|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.