Protein level identifier (NP_115785):
p.Leu347Pro
cDNA level identifier (NM_032409):
c.1040T>C
Gene level identifier:
g.12186T>C
Reference, alternative allele:
T, C
Genomic location hg(0)
1:20959947 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Not available
CADD score:
24
Positive functional evidence:
Number of all included cases:
28 homozygous (28 in total).