Protein level identifier (NP_001073136):
p.Pro187Argfs*39
cDNA level identifier (NM_001079668):
c.560_569delinsGCG
Gene level identifier:
g.3226_3235delinsGCG
Reference, alternative allele:
CGGCGCGCTTG, CCGC
Genomic location hg(19)
14:36987119 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Definitely pathogenic
CADD score:
34
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).