Protein level identifier (NP_000311):
p.Leu14Pro
cDNA level identifier (NM_000320):
c.41T>C
Gene level identifier:
g.221T>C
Reference, alternative allele:
A, G
Genomic location hg(0)
4:17513637 (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 homozygous (1 in total).