cDNA level identifier (n.a.):
c.1197+25_1397del
Gene level identifier:
g.5901_6616del
Archive identifier/Other designation:
deletion of exon 12 and part of exon 13
Reference, alternative allele:
C+716bp, C
Genomic location hg(0)
11:2186491 (not available on ExAC)
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).