cDNA level identifier (NM_014727):
c.1-241018_*321+1698595del
Gene level identifier:
g.1-241018_20859+1698595del
Reference, alternative allele:
C+1960470, C
Genomic location hg(0)
19:35967903 (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).