Variant (rsID / SNP)

rs2250402

rs2250402 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EIF2AK4. Location: chromosome 15, position 40,322,552. Clinical significance in the table: Benign.

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Reference-table entries

EIF2AK4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:40322552
Cytoband: 15q15.1
HGVS: NM_001013703.4(EIF2AK4):c.4562-8G>T
Allele change: Silent

Associated conditions / phenotypes

Familial pulmonary capillary hemangiomatosis

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.