Mutation details:

Protein level identifier (NP_004163):

p.Pro290Arg

cDNA level identifier (NM_004172):

c.869C>G

Gene level identifier:

g.73281C>G

Archive identifier/Other designation:

1047C>G

Reference, alternative allele:

C, G

Genomic location hg(19)

5:36679737 (not available on ExAC)

Gene name:

SLC1A3

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).