SMARCA4 c.3450del ;(p.F1150Lfs*14)

Variant ID: 19-11141473-TC-T

NM_003072.3(SMARCA4):c.3450del;(p.F1150Lfs*14)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Germline mutations of SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type and in SMARCA4-deficient undifferentiated uterine sarcoma: Clinical features of a single family and comparison of large cohorts.

Gynecologic Oncology
Connor, Yamicia D YD; Miao, Diana D; Lin, Douglas I DI; Hayne, Cynthia C; Howitt, Brooke E BE; Dalrymple, John L JL; DeLeonardis, Kimberly R KR; Hacker, Michele R MR; Esselen, Katharine M KM; Shea, Meghan M
Publication Date: 2020-04

Variant appearance in text: SMARCA4: Phe1150fs*14
PubMed Link: 31954538
Variant Present in the following documents:
  • Main text
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