Protein level identifier (n.a.):
p.Leu537Asnfs*3
cDNA level identifier (n.a.):
c.1608_1615delACTTGCTA
Gene level identifier:
g.79797_79804delACTTGCTA
Reference, alternative allele:
AACTTGCTA, A
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
4 heterozygous (4 in total).