Protein level identifier (NP_001073136):
p.Gln240Pro
cDNA level identifier (NM_001079668):
c.719A>C
Gene level identifier:
g.3385A>C
Archive identifier/Other designation:
c.629A>C
Reference, alternative allele:
T, G
Genomic location hg(19)
14:36986970 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
24
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).