Variant (rsID / SNP)

rs16997659

rs16997659 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EIF2S3. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

EIF2S3Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Cytoband: Xp22.11
HGVS: NM_001415.4(EIF2S3):c.374A>G (p.Lys125Arg)
Allele change: Missense_K125R

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.