Protein level identifier (NP_009193):
p.Leu172Gln
cDNA level identifier (NM_007262):
c.515T>A
Gene level identifier:
g.30709T>A
Archive identifier/Other designation:
p.L172Q
Reference, alternative allele:
T, A
Genomic location hg(19)
1:8045059 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
26
Positive functional evidence:
not available
Number of all included cases:
1 homozygous (1 in total).