Protein level identifier (NP_006507):
p.Gly130Ser
cDNA level identifier (NM_006516):
c.388G>A
Gene level identifier:
g.28106G>A
Reference, alternative allele:
C, T
Genomic location hg(19)
1:43396425 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
34
Positive functional evidence:
Number of all included cases:
1 heterozygous (1 in total).