LRRK2 c.5457T>G ;(p.G1819=)

Variant ID: 12-40716260-T-G

NM_198578.3(LRRK2):c.5457T>G;(p.G1819=)

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:

Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: LRRK2: G1819G
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page


Identification & characterization of leucine-rich repeat kinase 2 & parkin RBR E3 ubiquitin protein ligase variants in patients with Parkinson's disease.

The Indian Journal Of Medical Research
Halder, Tamali T; Verma, Shiv Prakash SP; Raj, Janak J; Pandey, Sharad S; Singh, Ranjeet Kumar RK; Sharma, Vivek V; Joshi, Deepika D; Das, Parimal P
Publication Date: 2020-11

Variant appearance in text: LRRK2: G1819G
PubMed Link: 33707392
Variant Present in the following documents:
  • Main text
  • IJMR-152-498.pdf
View BVdb publication page