Protein level identifier (n.a.):
p.Leu367del
cDNA level identifier (n.a.):
c.1101_1103delGTT
Gene level identifier:
g.63340_63342delGTT
Reference, alternative allele:
TGTT, T
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
21
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).