EVC2 c.1462G>A ;(p.G488S)

Variant ID: 4-5642249-C-T

NM_147127.4(EVC2):c.1462G>A;(p.G488S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Whole-exome sequencing reveals overlap between macrophage activation syndrome in systemic juvenile idiopathic arthritis and familial hemophagocytic lymphohistiocytosis.

Arthritis & Rheumatology (Hoboken, N.J.)
Kaufman, Kenneth M KM; Linghu, Bolan B; Szustakowski, Joseph D JD; Husami, Ammar A; Yang, Fan F; Zhang, Kejian K; Filipovich, Alexandra H AH; Fall, Ndate N; Harley, John B JB; Nirmala, N R NR; Grom, Alexei A AA
Publication Date: 2014-12

Variant appearance in text: EVC2: Gly488Ser
PubMed Link: 25047945
Variant Present in the following documents:
  • Main text
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