Protein level identifier (NP_060676):
p.Asp620Asn
cDNA level identifier (NM_018206):
c.1858G>A
Gene level identifier:
g.27067G>A
Reference, alternative allele:
C, T
Genomic location hg(19)
16:46696364 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
34
Positive functional evidence:
Number of all included cases:
49 heterozygous, 1 compound heterozygous (50 in total).