Protein level identifier (NP_000152):
p.Pro95Ser
cDNA level identifier (NM_000161):
c.283C > T
Gene level identifier:
g.472C>T
Reference, alternative allele:
G, A
Genomic location hg(0)
14:55369099 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
30
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).