Protein level identifier (NP_060575):
p.Ala38Glnfs*35
cDNA level identifier (NM_018105):
c.112delG
Gene level identifier:
g.3984delG
Reference, alternative allele:
CC, C
Genomic location hg(19)
8:42694484 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
29
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).