Protein level identifier (NP_000152):
p.Gln219Pro
cDNA level identifier (NM_000161):
c.656A>C
Gene level identifier:
g.58739A>C
Reference, alternative allele:
T, G
Genomic location hg(0)
14:55310832 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).