Screening #0000166200

Individual ID 00165322
Template DNA
Technique SEQ-NG-I
Tissue saliva
Remarks -
Variants found? Not yet submitted
Owner name Emanuele Micaglio


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 12 p13.3 2 267 213 2019-07-12 BRGDA-3, ID, Timothy
CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 7 q21-q22 1 131 99 N/A -
CACNB2 calcium channel, voltage-dependent, beta 2 subunit 10 p12 1 130 104 2017-09-19 BRGDA-4
DSG2 desmoglein 2 18 q12.1 1 571 290 2019-02-10 ARVD-10, CMD-1BB
GPD1L glycerol-3-phosphate dehydrogenase 1-like 3 p22.3 1 39 29 2017-09-19 BRGDA-2
HCN4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 15 q24.1 1 212 146 2019-03-25 BRGDA-8, SSS-2
KCND2 potassium voltage-gated channel, Shal-related subfamily, member 2 7 q31 1 2 2 N/A -
KCND3 potassium voltage-gated channel, Shal-related subfamily, member 3 1 p13.2 1 62 48 2017-12-22 BRGDA-9, SCA-19
KCNE3 potassium voltage-gated channel, Isk-related family, member 3 11 q13.4 1 11 9 N/A BRGDA-6
KCNH2 potassium voltage-gated channel, subfamily H (eag-related), member 2 7 q36.1 2 961 629 2019-09-30 LQT-2, SQT-1
PKP2 plakophilin 2 12 p11 1 796 437 2019-07-12 ARVD-9
RANGRF RAN guanine nucleotide release factor 17 p13 1 17 12 2019-02-20 -
SCN10A sodium channel, voltage-gated, type X, alpha subunit 3 p22.2 1 204 187 2019-03-23 FEPS-2
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 7 p12.1 1 54 29 2019-02-20 HH-16
TRPM4 transient receptor potential cation channel, subfamily M, member 4 19 q13.3 1 140 113 2018-11-08 heart block, familial, progressive, type 1B



Variants found

Stop! No entries found!