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LONP1 c.2389G>A ;(p.D797N)
Variant ID: 19-5693712-C-T
NM_004793.3(
LONP1
):c.2389G>A;(p.D797N)
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:
Distinct non-clock-like signatures of the basal cell carcinomas from three sisters with a lethal Gorlin-Goltz syndrome.
Bmc Medical Genomics
Ye, Lihua L; Wang, Li L; Peng, Kexin K; Fang, Ou O; Tian, Zhen Z; Li, Caihua C; Fu, Xiaopeng X; Chen, Qingdong Q; Chen, Jia J; Luan, Jing J; Zhang, Zhenghua Z; Zhang, Qiaoan Q
Publication Date: 2022-08-05
Variant appearance in text: LONP1: 2389G>A
PubMed Link:
35932013
Variant Present in the following documents:
12920_2022_1324_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page