Protein level identifier (NP_115785):
p.Cys549Trpfs*5
cDNA level identifier (NM_032409):
c.1647_1650delTGTG
Gene level identifier:
g.17138_17141delTGTG
Reference, alternative allele:
TTGTG, T
Genomic location hg(19)
1:20977082 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
3 compound heterozygous (3 in total).