cDNA level identifier (NM_014727):
c.1-414147_*321+2536044del
Gene level identifier:
g.1-414147_20859+2536044del
Reference, alternative allele:
A+2971048, A
Genomic location hg(0)
19:35794774 (not available on ExAC)
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Definitely pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).