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SI c.1715+106G>A
Variant ID: 3-164766809-C-T
NM_001041.3(
SI
):c.1715+106G>A
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: SI: 1715+106G>A
PubMed Link:
34289880
Variant Present in the following documents:
13052_2021_1112_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
A Novel Silent Mutation in the L1CAM Gene Causing Fetal Hydrocephalus Detected by Whole-Exome Sequencing.
Frontiers In Genetics
Sun, Yixi Y; Li, Yanfeng Y; Chen, Min M; Luo, Yuqin Y; Qian, Yeqing Y; Yang, Yanmei Y; Lu, Hong H; Lou, Fenlan F; Dong, Minyue M
Publication Date: 2019
Variant appearance in text: SI: 1715+106G>A
PubMed Link:
31572438
Variant Present in the following documents:
Table_1.xlsx, sheet 1
View BVdb publication page