LRRK2 c.4880C>T ;(p.S1627L)

Variant ID: 12-40713842-C-T

NM_198578.3(LRRK2):c.4880C>T;(p.S1627L)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: LRRK2: S1627L; rs201637880
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.

Neuro-Oncology
Kashani, Elham E; Schnidrig, Désirée D; Hashemi Gheinani, Ali A; Ninck, Martina Selina MS; Zens, Philipp P; Maragkou, Theoni T; Baumgartner, Ulrich U; Schucht, Philippe P; Rätsch, Gunnar G; Rubin, Mark A MA; Berezowska, Sabina S; Ng, Charlotte K Y CKY; Vassella, Erik E; ,
Publication Date: 2022-09-17

Variant appearance in text: LRRK2: 4880C>T; Ser1627Leu; rs201637880
PubMed Link: 36124685
Variant Present in the following documents:
  • noac220_suppl_supplementary_table_s3.xlsx, sheet 1
View BVdb publication page



H3K27me3 expression and methylation status in histological variants of malignant peripheral nerve sheath tumours.

The Journal Of Pathology
Lyskjaer, Iben I; Lindsay, Daniel D; Tirabosco, Roberto R; Steele, Christopher D CD; Lombard, Patrick P; Strobl, Anna-Christina AC; Rocha, Ana M AM; Davies, Christopher C; Ye, Hongtao H; Bekers, Elise E; Ingruber, Julia J; Lechner, Matt M; Amary, Fernanda F; Pillay, Nischalan N; Flanagan, Adrienne M AM
Publication Date: 2020-10

Variant appearance in text: LRRK2: 4880C>T; S1627L
PubMed Link: 32666581
Variant Present in the following documents:
  • PATH-252-151-s001.xlsx, sheet 3
View BVdb publication page



Genetic risk factors in Finnish patients with Parkinson's disease.

Parkinsonism & Related Disorders
Ylönen, Susanna S; Siitonen, Ari A; Nalls, Michael A MA; Ylikotila, Pauli P; Autere, Jaana J; Eerola-Rautio, Johanna J; Gibbs, Raphael R; Hiltunen, Mikko M; Tienari, Pentti J PJ; Soininen, Hilkka H; Singleton, Andrew B AB; Majamaa, Kari K
Publication Date: 2017-12

Variant appearance in text: LRRK2: S1627L; rs201637880
PubMed Link: 29029963
Variant Present in the following documents:
  • Main text
View BVdb publication page