Protein level identifier (NP_055542):
p.Asp1144Val
cDNA level identifier (NM_014727):
c.3431A>T
Gene level identifier:
g.6971A>T
Reference, alternative allele:
A, T
Genomic location hg(0)
19:36215891 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
28
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).