Protein level identifier (NP_060575):
p.Ser130Cysfs*4
cDNA level identifier (NM_018105):
c.389_390delCA
Gene level identifier:
g.5111_5112delCA
Reference, alternative allele:
CTG, C
Genomic location hg(19)
8:42693356 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
6 heterozygous (6 in total).