Protein level identifier (NP_000311):
p.Ser163lle
cDNA level identifier (NM_000320):
c.488G>T
Gene level identifier:
g.19946G>T
Reference, alternative allele:
C, A
Genomic location hg(0)
4:17493912 (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).