Variant (rsID / SNP)

rs2291627

rs2291627 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EIF2AK4. Location: chromosome 15, position 40,259,848. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

EIF2AK4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:40259848
Cytoband: 15q15.1
HGVS: NM_001013703.4(EIF2AK4):c.1321A>C (p.Ile441Leu)
Allele change: Missense_I441L

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.