Protein level identifier (NP_055542):
p.Gly1048Glufs*132
cDNA level identifier (NM_014727):
c.3143_3149del
Gene level identifier:
g.5797_5803delGGGCGGG
Reference, alternative allele:
GGGGCGGG, G
Genomic location hg(0)
19:36214716 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Definitely pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).