Protein level identifier (NP_004073):
p.Phe52Leu
cDNA level identifier (NM_004082):
c.156T>G
Gene level identifier:
g.13965T>G
Reference, alternative allele:
A, C
Genomic location hg(0)
2:74605250 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
23
Positive functional evidence:
not available
Number of all included cases:
4 heterozygous (4 in total).