Variant (rsID / SNP)

rs201275730

rs201275730 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMS. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SMSBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xp22.11
HGVS: NM_004595.5(SMS):c.569C>T (p.Thr190Ile)
Allele change: Missense_T190I

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.