Protein level identifier (NP_006740):
p.Asn587Serfs*7
cDNA level identifier (NM_006749):
c.1755_1768delCTCCAACATCGGGC
Gene level identifier:
g.110755_110768delCTCCAACATCGGGC
Reference, alternative allele:
AGCCCGATGTTGGAG, A
Genomic location hg(19)
8:42286301 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).