LRRK2 c.6110-190G>T

Variant ID: 12-40740365-G-T

NM_198578.3(LRRK2):c.6110-190G>T

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs10784522
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study.

Brain : A Journal Of Neurology
Tan, Manuela M X MMX; Malek, Naveed N; Lawton, Michael A MA; Hubbard, Leon L; Pittman, Alan M AM; Joseph, Theresita T; Hehir, Jason J; Swallow, Diane M A DMA; Grosset, Katherine A KA; Marrinan, Sarah L SL; Bajaj, Nin N; Barker, Roger A RA; Burn, David J DJ; Bresner, Catherine C; Foltynie, Thomas T; Hardy, John J; Wood, Nicholas N; Ben-Shlomo, Yoav Y; Grosset, Donald G DG; Williams, Nigel M NM; Morris, Huw R HR
Publication Date: 2019-09-01

Variant appearance in text: rs10784522
PubMed Link: 31324919
Variant Present in the following documents:
  • awz191_supplementary_data.pdf
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LRRK2 G2019S in families with Parkinson disease who originated from Europe and the Middle East: evidence of two distinct founding events beginning two millennia ago.

American Journal Of Human Genetics
Zabetian, Cyrus P CP; Hutter, Carolyn M CM; Yearout, Dora D; Lopez, Alexis N AN; Factor, Stewart A SA; Griffith, Alida A; Leis, Berta C BC; Bird, Thomas D TD; Nutt, John G JG; Higgins, Donald S DS; Roberts, John W JW; Kay, Denise M DM; Edwards, Karen L KL; Samii, Ali A; Payami, Haydeh H
Publication Date: 2006-10

Variant appearance in text: rs10784522
PubMed Link: 16960813
Variant Present in the following documents:
  • Main text
View BVdb publication page