Protein level identifier (NP_001243371):
p.Val325Serfs*12
cDNA level identifier (NM_001256442):
c.972delA
Gene level identifier:
g.2570delA
Reference, alternative allele:
GA, G
Genomic location hg(19)
16:29825745 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
25
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).