Protein level identifier (NP_006507):
p.Met1?
cDNA level identifier (NM_006516):
c.1A>G
Gene level identifier:
g.209A>G
Reference, alternative allele:
T, C
Genomic location hg(19)
1:43424322 (not available on ExAC)
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
23
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).