Protein level identifier (NP_004727):
p.Leu87Pro
cDNA level identifier (NM_004736):
c.260T>C
Gene level identifier:
g.171421T>C
Reference, alternative allele:
T, C
Genomic location hg(19)
1:180772560 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
Number of all included cases:
2 heterozygous (2 in total).