Variant (rsID / SNP)

rs13045

rs13045 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EIF2AK3. Location: chromosome 2, position 88,895,123. 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: 2:88895123
Cytoband: 2p11.2
HGVS: NM_004836.7(EIF2AK3):c.497A>G (p.Gln166Arg)
Allele change: Missense_Q15R

Associated conditions / phenotypes

Wolcott-Rallison dysplasia|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.