HEATR4 c.1817C>T ;(p.T606I)

Variant ID: 14-73974902-G-A

NM_001220484.1(HEATR4):c.1817C>T;(p.T606I)

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:

Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.

Scientific Reports
Popp, Bernt B; Krumbiegel, Mandy M; Grosch, Janina J; Sommer, Annika A; Uebe, Steffen S; Kohl, Zacharias Z; Plötz, Sonja S; Farrell, Michaela M; Trautmann, Udo U; Kraus, Cornelia C; Ekici, Arif B AB; Asadollahi, Reza R; Regensburger, Martin M; Günther, Katharina K; Rauch, Anita A; Edenhofer, Frank F; Winkler, Jürgen J; Winner, Beate B; Reis, André A
Publication Date: 2018-11-21

Variant appearance in text: HEATR4: 1817C>T; Thr606Ile
PubMed Link: 30464253
Variant Present in the following documents:
  • 41598_2018_35506_MOESM5_ESM.xlsx, sheet 6
View BVdb publication page