Protein level identifier (NP_001073136):
p.Arg243Pro
cDNA level identifier (NM_001079668):
c.728G>C
Gene level identifier:
g.3394G>C
Archive identifier/Other designation:
c.638G>C
Reference, alternative allele:
C, G
Genomic location hg(19)
14:36986961 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
32
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).