Protein level identifier (NP_001073136):
p.Leu293Glyext*147
cDNA level identifier (NM_001079668):
c.876_877delCC
Gene level identifier:
g.3542_3543delCC
Archive identifier/Other designation:
c.786_787del
Reference, alternative allele:
AGG, A
Genomic location hg(19)
14:36986811 (not available on ExAC)
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
34
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).