Variant (rsID / SNP)

rs142052951

rs142052951 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SHROOM4. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SHROOM4Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Cytoband: Xp11.22
HGVS: NM_020717.5(SHROOM4):c.509A>G (p.Tyr170Cys)
Allele change: Missense_Y170C

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.