Variant (rsID / SNP)

rs1805165

rs1805165 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EIF2AK3. Location: chromosome 2, position 88,874,891. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

EIF2AK3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:88874891
Cytoband: 2p11.2
HGVS: NM_004836.7(EIF2AK3):c.2110G>T (p.Ala704Ser)
Allele change: Silent

Associated conditions / phenotypes

Wolcott-Rallison dysplasia

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.