Protein level identifier (n.a.):
p.Ala291Leufs*6
cDNA level identifier (n.a.):
c.871delG
Gene level identifier:
g.942000delG
Archive identifier/Other designation:
972delG
Reference, alternative allele:
CC, C
Genomic location hg(19)
6:162206804 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
3 homozygous (3 in total).