Protein level identifier (NP_060575):
p.Leu72Hisfs*14
cDNA level identifier (NM_018105):
c.214_215InsA
Gene level identifier:
g.4087_4088insA
Reference, alternative allele:
A, AA
Genomic location hg(19)
8:42694381 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
33
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).