FDXR c.393G>T ;(p.L131=)

Variant ID: 17-72862568-C-A

NM_024417.2(FDXR):c.393G>T;(p.L131=)

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:

Association of variants m.T16172C and m.T16519C in whole mtDNA sequences with high altitude pulmonary edema in Han Chinese lowlanders.

Bmc Pulmonary Medicine
Wang, Yan Y; Huang, Xuewen X; Peng, Fujun F; Han, Huiling H; Gu, Yanan Y; Liu, Xin X; Feng, Zhichun Z
Publication Date: 2022-02-25

Variant appearance in text: ADR: Leu131Leu
PubMed Link: 35216582
Variant Present in the following documents:
  • 12890_2021_1791_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page