Protein level identifier (NP_115785):
p.His271Gln
cDNA level identifier (NM_032409):
c.813C>A
Gene level identifier:
g.11072C>A
Reference, alternative allele:
C, A
Genomic location hg(19)
1:20971019 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
29
Number of all included cases:
1 homozygous (1 in total).