MPHOSPH9 c.195T>C ;(p.T65=)

MPHOSPH9 c.195T>C ;(p.T65=)

Variant ID: 12-123712073-A-G

NM_022782.3(MPHOSPH9):c.195T>C;(p.T65=)

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:

Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: MPHOSPH9: T65T

PubMed Link: 35768426

Variant Present in the following documents:

41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page