Protein level identifier (NP_006507):
p.Phe263Leu*117
cDNA level identifier (NM_006516):
c.789_790delCC
Gene level identifier:
g.29189_29190delCC
Reference, alternative allele:
CGG, C
Genomic location hg(19)
1:43395340 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).