Protein level identifier (NP_060575):
p.Ser6Phe
cDNA level identifier (NM_018105):
c.17C>T
Gene level identifier:
g.248C>T
Reference, alternative allele:
G, A
Genomic location hg(19)
8:42698221 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
32
Number of all included cases:
1 heterozygous (1 in total).