Protein level identifier (NP_065753):
p.Arg116_Ser117insLeuAlaPheArg
cDNA level identifier (NM_020702):
c.348_349insCTGGCC TTCCGC
Gene level identifier:
g.4258_4259insCTGGCC TTCCGC
Archive identifier/Other designation:
p.R116_S117insLAFR
Reference, alternative allele:
A, AGCGGAAGGCCAG
Genomic location hg(19)
Gene name:
Consequence:
in frame indel
Pathogenicity scoring:
Possibly pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).