HR c.1A>G ;(p.M1?)

Variant ID: 8-21986683-T-C

NM_005144.4(HR):c.1A>G;(p.M1?)

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:

Late-Onset Carnitine-Acylcarnitine Translocase Deficiency With SLC25A20 c.199-10T>G Variation: Case Report and Pathologic Analysis of Liver Biopsy.

Frontiers In Pediatrics
Chen, Min M; Cai, Yao Y; Li, Sitao S; Xiong, Hui H; Liu, Mengxian M; Ma, Fei F; Xiao, Xin X; Hao, Hu H
Publication Date: 2020

Variant appearance in text: HR: 1A>G
PubMed Link: 33194920
Variant Present in the following documents:
  • fped-08-585646.pdf
View BVdb publication page


Novel Mutations Detected in Avirulence Genes Overcoming Tomato Cf Resistance Genes in Isolates of a Japanese Population of Cladosporium fulvum.

Plos One
Iida, Yuichiro Y; van 't Hof, Pieter P; Beenen, Henriek H; Mesarich, Carl C; Kubota, Masaharu M; Stergiopoulos, Ioannis I; Mehrabi, Rahim R; Notsu, Ayumi A; Fujiwara, Kazuki K; Bahkali, Ali A; Abd-Elsalam, Kamel K; Collemare, Jérôme J; de Wit, Pierre J G M PJ
Publication Date: 2015

Variant appearance in text: HR: 1A>G; Met1Val
PubMed Link: 25902074
Variant Present in the following documents:
  • Main text
  • pone.0123271.pdf
View BVdb publication page