Protein level identifier (n.a.):
p.Ala952Serfs*115
cDNA level identifier (n.a.):
c.2852_2861delGCGCGGACGG
Gene level identifier:
g.325207_325216delGCGCGGACGG
Reference, alternative allele:
CCCGTCCGCGC, C
Genomic location hg(0)
not available
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Possibly pathogenic
CADD score:
32
Positive functional evidence:
not available
Number of all included cases:
1 n.a. (1 in total).