Protein level identifier (NP_004727):
p.Leu145Pro
cDNA level identifier (NM_004736):
c.434T>C
Gene level identifier:
g.171595T>C
Reference, alternative allele:
T, C
Genomic location hg(19)
1:180772734 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
not available
Number of all included cases:
7 heterozygous (7 in total).