DSC2 c.663T>C ;(p.Y221=)

Variant ID: 18-28667744-A-G

NM_024422.3(DSC2):c.663T>C;(p.Y221=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Actionable, pathogenic incidental findings in 1,000 participants' exomes.

American Journal Of Human Genetics
Dorschner, Michael O MO; Amendola, Laura M LM; Turner, Emily H EH; Robertson, Peggy D PD; Shirts, Brian H BH; Gallego, Carlos J CJ; Bennett, Robin L RL; Jones, Kelly L KL; Tokita, Mari J MJ; Bennett, James T JT; Kim, Jerry H JH; Rosenthal, Elisabeth A EA; Kim, Daniel S DS; , ; Tabor, Holly K HK; Bamshad, Michael J MJ; Motulsky, Arno G AG; Scott, C Ronald CR; Pritchard, Colin C CC; Walsh, Tom T; Burke, Wylie W; Raskind, Wendy H WH; Byers, Peter P; Hisama, Fuki M FM; Nickerson, Deborah A DA; Jarvik, Gail P GP
Publication Date: 2013-10-03

Variant appearance in text: rs145476705
PubMed Link: 24055113
Variant Present in the following documents:
  • Main text
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