Protein level identifier (NP_075063):
p.Gly122Glyfs*46
cDNA level identifier (NM_022912):
c.366G>T
Gene level identifier:
g.86076G>T
Reference, alternative allele:
C, A
Genomic location hg(19)
not available
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
3 heterozygous (3 in total).