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Table 1 Genetic information of the patient from whole exosome sequencing

From: Pulmonary veno-occlusive disease in Sjogren's syndrome: a case report

Gene

Chromosomal location

Variant

Mutant type

Pathogenicity classification

Genetic mode

Disease/phenotype

EIF2AK4

Chr15: 39967347

NM_001013703.4:exon9: c.1021C > T (p.Gln341*)

Hom

pathogenic

AR

PVOD

  1. AR autosomal recessive, Hom homozygosis, PVOD pulmonary veno-occlusive disease,
  2. A Variant name followed Human Genome Variation Society nomenclature (http://varnomen.hgvs.org/)
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BMC Pulmonary Medicine

ISSN: 1471-2466

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