LOVD - Current system status

2012/02/22 21:05:30 UTC - Wednesday, February 22nd 2012

Gene symbol Gene name Total variants Unique variants
AKAP9 A kinase (PRKA) anchor protein (yotiao) 9 48 47
ANK2 ankyrin 2, neuronal 71 56
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 7 5
CAV3 Caveolin 3 17 14
KCNE1 potassium voltage-gated channel, Isk-related family, member 1 118 52
KCNE2 potassium voltage-gated channel, Isk-related family, member 2 53 28
KCNH2 potassium voltage-gated channel, subfamily H (eag-related), member 2 943 590
KCNJ2 potassium inwardly-rectifying channel, subfamily J, member 2 94 53
KCNQ1 potassium voltage-gated channel, KQT-like subfamily, member 1 952 478
SCN4B sodium channel, voltage-gated, type IV, beta 7 6
SCN5A sodium channel, voltage-gated, type V, alpha subunit 666 403
SNTA1 syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic compon 9 9
  Total of 12 gene entries 2985 1741