Variant (rsID / SNP)

rs864621972

rs864621972 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EIF2AK3. Location: chromosome 2, position 88,888,393. Clinical significance in the table: Pathogenic.

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Reference-table entries

EIF2AK3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:88888393
Cytoband: 2p11.2
HGVS: NM_004836.7(EIF2AK3):c.1192C>T (p.Gln398Ter)
Allele change: Nonsense_Q247X

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.