Protein level identifier (NP_065753):
p.Trp229Cys
cDNA level identifier (NM_020702):
c.687G>T
Gene level identifier:
g.4597G>T
Archive identifier/Other designation:
p.W229C
Reference, alternative allele:
C, A
Genomic location hg(19)
9:34372255 (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:
1 compound heterozygous (1 in total).