Protein level identifier (NP_071372):
p.Phe851Cysfs*6
cDNA level identifier (NM_022089):
c.2552_2553delTT
Gene level identifier:
g.22181_22182delTT
Archive identifier/Other designation:
c.2742_2743delTT in korr. durch 21696388
Reference, alternative allele:
CAA, C
Genomic location hg(0)
1:17316241 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
32
Positive functional evidence:
not available
Number of all included cases:
1 homozygous (1 in total).