Protein level identifier (NP_055542):
p.Ala1616Val
cDNA level identifier (NM_014727):
c.4847C>T
Gene level identifier:
g.11207C>T
Reference, alternative allele:
C, T
Genomic location hg(0)
19:36220127 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
26
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).