cDNA level identifier (NM_001079668):
c.463+3_463+6delAAGT
Gene level identifier:
g.2168_2171delAAGT
Archive identifier/Other designation:
c.373+1_373+4del
Reference, alternative allele:
CACTT, C
Genomic location hg(19)
14:36988183 (not available on ExAC)
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
23
Positive functional evidence:
not available
Number of all included cases:
3 heterozygous (3 in total).