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CAPN6 c.1674A>G ;(p.T558=)
Variant ID: X-110490665-T-C
NM_014289.3(
CAPN6
):c.1674A>G;(p.T558=)
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: CAPN6: 1674A>G; Thr558Thr
PubMed Link:
30464253
Variant Present in the following documents:
41598_2018_35506_MOESM5_ESM.xlsx, sheet 4
View BVdb publication page