Protein level identifier (NP_002599):
p.Met1?
cDNA level identifier (NM_002608):
c.3G>A
Gene level identifier:
g.791G>A
Reference, alternative allele:
C, T
Genomic location hg(19)
22:39639966 (not available on ExAC)
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
Number of all included cases:
3 heterozygous (3 in total).