Protein level identifier (NP_055542):
p.Ser2070Argfs*20
cDNA level identifier (NM_014727):
c.6210_6213delTGAG
Gene level identifier:
g.14740_14743delTGAG
Reference, alternative allele:
GTGAG, G
Genomic location hg(0)
19:36223659 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Definitely pathogenic
CADD score:
34
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).