Protein level identifier (NP_001035):
p.Asp421Asn
cDNA level identifier (NM_001044):
c.1261G>A
Gene level identifier:
g.34180G>A
Reference, alternative allele:
C, T
Genomic location hg(19)
5:1411366 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).