Protein level identifier (NP_055542):
p.Leu1190Serfs*162
cDNA level identifier (NM_014727):
c.3568_3577delCTGAGTGTGC
Gene level identifier:
g.7240_7249delCTGAGTGTGC
Reference, alternative allele:
CCTGAGTGTGC, C
Genomic location hg(0)
19:36216159 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Definitely pathogenic
CADD score:
35
Positive functional evidence:
Number of all included cases:
1 heterozygous (1 in total).