Variant (rsID / SNP)

rs35226268

rs35226268 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EIF2AK3. Location: chromosome 2, position 88,876,094. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

EIF2AK3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:88876094
Cytoband: 2p11.2
HGVS: NM_004836.7(EIF2AK3):c.2014G>A (p.Glu672Lys)
Allele change: Missense_E521K

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.