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PC c.608dup ;(p.M204Hfs*97)
Variant ID: 11-66638547-G-GC
NM_001040716.1(
PC
):c.608dup;(p.M204Hfs*97)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.
American Journal Of Human Genetics
Lin, Zhimiao Z; Zhao, Jiahui J; Nitoiu, Daniela D; Scott, Claire A CA; Plagnol, Vincent V; Smith, Frances J D FJ; Wilson, Neil J NJ; Cole, Christian C; Schwartz, Mary E ME; McLean, W H Irwin WH; Wang, Huijun H; Feng, Cheng C; Duo, Lina L; Zhou, Eray Yihui EY; Ren, Yali Y; Dai, Lanlan L; Chen, Yulan Y; Zhang, Jianguo J; Xu, Xun X; O'Toole, Edel A EA; Kelsell, David P DP; Yang, Yong Y
Publication Date: 2015-03-05
Variant appearance in text: PC: 607dup
PubMed Link:
25683118
Variant Present in the following documents:
Main text
View BVdb publication page