Variant (rsID / SNP)

rs867529

rs867529 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EIF2AK3. Location: chromosome 2, position 88,913,273. Clinical significance in the table: Benign.

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Reference-table entries

EIF2AK3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:88913273
Cytoband: 2p11.2
HGVS: NM_004836.7(EIF2AK3):c.407C>G (p.Ser136Cys)
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.