Protein level identifier (NP_002600):
p.Leu658Pro
cDNA level identifier (NM_002609):
c.1973T>C
Gene level identifier:
g.31561T>C
Archive identifier/Other designation:
p.L658P
Reference, alternative allele:
A, G
Genomic location hg(19)
5:149503863 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Number of all included cases:
1 heterozygous (1 in total).