Protein level identifier (NP_060575):
p.Lys89Lys
cDNA level identifier (NM_018105):
c.267G>A
Gene level identifier:
g.4140G>A
Archive identifier/Other designation:
deletion of exon 2
Reference, alternative allele:
C, T
Genomic location hg(19)
8:42694329 (not available on ExAC)
Gene name:
Consequence:
silent
Pathogenicity scoring:
Probably pathogenic
CADD score:
17
Positive functional evidence:
Number of all included cases:
2 heterozygous (2 in total).