Variant (rsID / SNP)

rs201593811

rs201593811 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EIF2AK3. Location: chromosome 2, position 88,926,639. 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: 2:88926639
Cytoband: 2p11.2
HGVS: NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr)
Allele change: Missense_A52T

Associated conditions / phenotypes

Wolcott-Rallison dysplasia|Monogenic diabetes|Connective tissue disorder

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.