Protein level identifier (NP_115785):
p.Val59Serfs*48
cDNA level identifier (NM_032409):
c.173delG
Gene level identifier:
g.267delG
Reference, alternative allele:
AG, A
Genomic location hg(0)
1:20960214 (not available on ExAC)
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Not available
CADD score:
21
Positive functional evidence:
not available
Number of all included cases:
1 homozygous, 1 compound heterozygous (2 in total).