Protein level identifier (NP_055542):
p.Tyr2488Cys
cDNA level identifier (NM_014727):
c.7463A>G
Gene level identifier:
g.19157A>G
Reference, alternative allele:
A, G
Genomic location hg(0)
19:36228077 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
29
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).