ARID1A c.3300_3301del ;(p.Y1101Cfs*3)

Variant ID: 1-27097707-GTC-G

NM_006015.4(ARID1A):c.3300_3301del;(p.Y1101Cfs*3)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Sadikovic, Bekim B; Levy, Michael A MA; Kerkhof, Jennifer J; Aref-Eshghi, Erfan E; Schenkel, Laila L; Stuart, Alan A; McConkey, Haley H; Henneman, Peter P; Venema, Andrea A; Schwartz, Charles E CE; Stevenson, Roger E RE; Skinner, Steven A SA; DuPont, Barbara R BR; Fletcher, Robin S RS; Balci, Tugce B TB; Siu, Victoria Mok VM; Granadillo, Jorge L JL; Masters, Jennefer J; Kadour, Mike M; Friez, Michael J MJ; van Haelst, Mieke M MM; Mannens, Marcel M A M MMAM; Louie, Raymond J RJ; Lee, Jennifer A JA; Tedder, Matthew L ML; Alders, Marielle M
Publication Date: 2021-06

Variant appearance in text: ARID1A: 3300_3301del; Tyr1101Cysfs*3
PubMed Link: 33547396
Variant Present in the following documents:
  • 41436_2020_1096_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page