Protein level identifier (n.a.):
p.Cys253Phe
cDNA level identifier (n.a.):
c.758G>T
Gene level identifier:
g.941887G>T
Reference, alternative allele:
C, A
Genomic location hg(19)
6:162206917 (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:
2 compound heterozygous (2 in total).