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SLC25A39 c.145+172T>C
Variant ID: 17-42400480-A-G
NM_001143780.1(
SLC25A39
):c.145+172T>C
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.
Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021
Variant appearance in text: SLC25A39: 145+172T>C; rs4793092
PubMed Link:
34054912
Variant Present in the following documents:
Table_2.xlsx, sheet 1
View BVdb publication page
Frequent mutation of hypoxia-related genes in persistent pulmonary hypertension of the newborn.
Respiratory Research
Wang, Mingbang M; Zhuang, Deyi D; Mei, Mei M; Ma, Haiyan H; Li, Zixiu Z; He, Fusheng F; Cheng, Guoqiang G; Lin, Guang G; Zhou, Wenhao W
Publication Date: 2020-02-13
Variant appearance in text: rs4793092
PubMed Link:
32054482
Variant Present in the following documents:
12931_2020_1314_MOESM1_ESM.xlsx, sheet 7
View BVdb publication page
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.
Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018
Variant appearance in text: SLC25A39: 145+172T>C; rs4793092
PubMed Link:
30319441
Variant Present in the following documents:
Table_7.xlsx, sheet 1
Table_6.xlsx, sheet 1
Table_5.xlsx, sheet 1
View BVdb publication page