Protein level identifier (NP_001243371):
p.*341Lysext*37
cDNA level identifier (NM_001256442):
c.1020_1021insATAAG
Gene level identifier:
g.2780_2781insATAAG
Reference, alternative allele:
G, GATAAG
Genomic location hg(19)
16:29825956 (not available on ExAC)
Gene name:
Consequence:
structural variation
Pathogenicity scoring:
Probably pathogenic
CADD score:
32
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).