Protein level identifier (NP_000152):
p.Val226Aspfs*24
cDNA level identifier (NM_000161):
c.676_677insA
Gene level identifier:
g.58759_58760insA
Reference, alternative allele:
A, AT
Genomic location hg(0)
14:55310811 (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).