Protein level identifier (NP_000311):
p.Gly170Ser
cDNA level identifier (NM_000320):
c.508G>A
Gene level identifier:
g.19966G>A
Reference, alternative allele:
C, T
Genomic location hg(0)
4:17493892 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).