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PKD1 c.3587C>T ;(p.T1196M)
Variant ID: 16-2161581-G-A
NM_001009944.2(
PKD1
):c.3587C>T;(p.T1196M)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The metabolic genomic atlas reveals potential drivers and clinically relevant insights into the etiology of esophageal squamous cell carcinoma.
Theranostics
Liu, Xuesong X; Hong, Ruoxi R; Du, Peina P; Yang, Di D; He, Meibo M; Wu, Qingnan Q; Li, Lin L; Wang, Yan Y; Chen, Jie J; Min, Qingjie Q; Li, Jinting J; Zhang, Weimin W; Zhan, Qimin Q
Publication Date: 2022
Variant appearance in text: PKD1: 3587C>T; T1196M
PubMed Link:
36168622
Variant Present in the following documents:
thnov12p6160s2.xlsx, sheet 2
View BVdb publication page
Recessive PKD1 Mutations Are Associated With Febrile Seizures and Epilepsy With Antecedent Febrile Seizures and the Genotype-Phenotype Correlation.
Frontiers In Molecular Neuroscience
Wang, Jing-Yang JY; Wang, Jie J; Lu, Xin-Guo XG; Song, Wang W; Luo, Sheng S; Zou, Dong-Fang DF; Hua, Li-Dong LD; Peng, Qian Q; Tian, Yang Y; Gao, Liang-Di LD; Liao, Wei-Ping WP; He, Na N
Publication Date: 2022
Variant appearance in text: PKD1: 3587C>T; T1196M
PubMed Link:
35620448
Variant Present in the following documents:
Main text
fnmol-15-861159.pdf
View BVdb publication page
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).
Scientific Reports
Carrera, Paola P; Calzavara, Silvia S; Magistroni, Riccardo R; den Dunnen, Johan T JT; Rigo, Francesca F; Stenirri, Stefania S; Testa, Francesca F; Messa, Piergiorgio P; Cerutti, Roberta R; Scolari, Francesco F; Izzi, Claudia C; Edefonti, Alberto A; Negrisolo, Susanna S; Benetti, Elisa E; Alibrandi, Maria Teresa Sciarrone MT; Manunta, Paolo P; Boletta, Alessandra A; Ferrari, Maurizio M
Publication Date: 2016-08-08
Variant appearance in text: PKD1: 3587C>T; Thr1196Met
PubMed Link:
27499327
Variant Present in the following documents:
srep30850-s7.xls, sheet 1
View BVdb publication page