GALNT2 c.394C>T ;(p.R132W)

Variant ID: 1-230371779-C-T

NM_004481.3(GALNT2):c.394C>T;(p.R132W)

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:

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: GALNT2: 394C>T; Arg132Trp
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page


Systematic analysis of genetic variants in Han Chinese patients with sporadic Parkinson's disease.

Scientific Reports
Yuan, Lamei L; Song, Zhi Z; Deng, Xiong X; Zheng, Wen W; Guo, Yi Y; Yang, Zhijian Z; Deng, Hao H
Publication Date: 2016-09-22

Variant appearance in text: rs34322892
PubMed Link: 27653456
Variant Present in the following documents:
  • Main text
  • srep33850.pdf
  • srep33850-s1.pdf
View BVdb publication page