Protein level identifier (NP_055542):
p.Leu2136Serfs*17
cDNA level identifier (NM_014727):
c.6406delC
Gene level identifier:
g.14936_14936delC
Reference, alternative allele:
AC, C
Genomic location hg(0)
19:36223855 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Definitely pathogenic
CADD score:
24
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).