Protein level identifier (NP_006740):
p.Ser610Alafs*18
cDNA level identifier (NM_006749):
c.1828_1831delTCCC
Gene level identifier:
g.121618_121621delTCCC
Archive identifier/Other designation:
p.S610Afs*18
Reference, alternative allele:
CGGGA, C
Genomic location hg(19)
8:42275448 (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:
2 heterozygous (2 in total).