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PDE11A c.2757A>C ;(p.S919=)
Variant ID: 2-178494180-T-G
NM_016953.3(
PDE11A
):c.2757A>C;(p.S919=)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome.
Italian Journal Of Pediatrics
Wu, Shao-Wen SW; Li, Lin L; Feng, Fan F; Wang, Li L; Kong, Yuan-Yuan YY; Liu, Xiao-Wei XW; Yin, Chenghong C
Publication Date: 2021-07-21
Variant appearance in text: PDE11A: 2757A>C; S919S; rs751695585
PubMed Link:
34289880
Variant Present in the following documents:
13052_2021_1112_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
A pan-cancer analysis of synonymous mutations.
Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12
Variant appearance in text: PDE11A: 2757A>C
PubMed Link:
31189880
Variant Present in the following documents:
41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page