Protein level identifier (NP_000152):
p.Val205Gly
cDNA level identifier (NM_000161):
c.614T> G
Gene level identifier:
g.57073T>G
Reference, alternative allele:
A, C
Genomic location hg(0)
14:55312498 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
26
Positive functional evidence:
not available
Number of all included cases:
3 heterozygous, 1 compound heterozygous (4 in total).