Variant (rsID / SNP)

rs6638360

rs6638360 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HUWE1. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

HUWE1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xp11.22
HGVS: NM_031407.7(HUWE1):c.2109A>G (p.Ser703=)
Allele change: Synonymous_S703S

Associated conditions / phenotypes

History of neurodevelopmental disorder|Intellectual disability, X-linked syndromic, Turner 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.