BRCA1 c.546_547insTGCA ;(p.G183Cfs*4)

Variant ID: 17-41251792-C-CTGCA

NM_007294.3(BRCA1):c.546_547insTGCA;(p.G183Cfs*4)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.

Plos One
Wappenschmidt, Barbara B; Becker, Alexandra A AA; Hauke, Jan J; Weber, Ute U; Engert, Stefanie S; Köhler, Juliane J; Kast, Karin K; Arnold, Norbert N; Rhiem, Kerstin K; Hahnen, Eric E; Meindl, Alfons A; Schmutzler, Rita K RK
Publication Date: 2012

Variant appearance in text: BRCA1: Gly183Cysfs
PubMed Link: 23239986
Variant Present in the following documents:
  • Main text
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