LOVD - Current system status

2013/05/25 20:00:26 CEST - Saturday, May 25th 2013

Gene symbol Gene name Total variants Unique variants Patients
FANCA Fanconi anemia, complementation group A 1542 489 895
FANCB Fanconi anemia, complementation group B 26 19 26
FANCC Fanconi anemia, complementation group C 300 56 172
FANCD1 Fanconi anemia, complementation group D1 (BRCA2) 60 37 31
FANCD2 Fanconi anemia, complementation group D2 78 33 38
FANCE Fanconi anemia, complementation group E 49 26 33
FANCF Fanconi anemia, complementation group F 44 15 22
FANCG Fanconi anemia, complementation group G 239 54 123
FANCI Fanconi anemia, complementation group I 40 24 20
FANCJ BRCA1 interacting protein C-terminal helicase 1 (BRIP1) 48 12 24
FANCL Fanconi anemia, complementation group L 4 3 2
FANCM Fanconi anemia, complementation group M 6 3 3
FANCN Partner and localizer of BRCA2 (PALB2) 18 16 9
FANCO RAD51 homolog C (S. cerevisiae) (FANCO) 6 1 6
FANCP SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (FANCP) 14 8 7
  Total of 15 gene entries 2474 796 1411