Protein level identifier (n.a.):
p.Leu510Gln
cDNA level identifier (n.a.):
c.1529T>A
Gene level identifier:
.7587T>A
Reference, alternative allele:
A, T
Genomic location hg(0)
11:2185521 (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).