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

Phosphorylation activity:

Positive functional evidence:

Number of all included cases:

1 heterozygous, 1 compound heterozygous (2 in total).