Protein level identifier (NP_061183):
p.Tyr30*
cDNA level identifier (NM_018713):
c.90C>G
Gene level identifier:
g.30297C>G
Reference, alternative allele:
G, C
Genomic location hg(19)
1:220101693 (not available on ExAC)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 homozygous (1 in total).