SMARCA4 c.1379del ;(p.Q460Rfs*41)

Variant ID: 19-11101959-CA-C

NM_003072.3(SMARCA4):c.1379del;(p.Q460Rfs*41)

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: Gln460fs*41
PubMed Link: 31954538
Variant Present in the following documents:
  • Main text
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