Protein level identifier (NP_115785):
p.Ile368Asn
cDNA level identifier (NM_032409):
c.1103T>A
Gene level identifier:
g.12249T>A
Archive identifier/Other designation:
p.I368N
Reference, alternative allele:
T, A
Genomic location hg(0)
1:20972196 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Not available
CADD score:
26
Number of all included cases:
2 homozygous (2 in total).