ETFBKMT c.583C>T ;(p.L195F)

Variant ID: 12-31820718-C-T

NM_001135863.1(ETFBKMT):c.583C>T;(p.L195F)

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:

Distribution and effects of nonsense polymorphisms in human genes.

Plos One
Yamaguchi-Kabata, Yumi Y; Shimada, Makoto K MK; Hayakawa, Yosuke Y; Minoshima, Shinsei S; Chakraborty, Ranajit R; Gojobori, Takashi T; Imanishi, Tadashi T
Publication Date: 2008

Variant appearance in text: rs11051523
PubMed Link: 18852891
Variant Present in the following documents:
View BVdb publication page