Protein level identifier (NP_055542):
p.Ala1563Aspfs*83
cDNA level identifier (NM_014727):
c.4688delC
Gene level identifier:
g.10966_10966delC
Reference, alternative allele:
GC, G
Genomic location hg(0)
19:36219885 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Definitely pathogenic
CADD score:
23
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).