Protein level identifier (NP_002134):
p.Asn75Lys
cDNA level identifier (NM_002143):
c.225C>A
Gene level identifier:
g.3130C>A
Reference, alternative allele:
C, A
Genomic location hg(19)
1:33354724 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
28
Positive functional evidence:
Number of all included cases:
3 homozygous (3 in total).