Variant (rsID / SNP)

rs140330609

rs140330609 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IL1RAPL1. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

IL1RAPL1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xp21.2
HGVS: NM_014271.4(IL1RAPL1):c.2067C>G (p.Thr689=)
Allele change: Synonymous_T689T

Associated conditions / phenotypes

Intellectual disability, X-linked 21

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.