Protein level identifier (NP_006740):
p.Ser601Trp
cDNA level identifier (NM_006749):
c.1802C>G
Gene level identifier:
g.121592C>G
Archive identifier/Other designation:
p.S601W
Reference, alternative allele:
G, C
Genomic location hg(19)
8:42275478 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
Number of all included cases:
1 heterozygous, 1 compound heterozygous (2 in total).