Mutation details:

Protein level identifier (NP_004163):

p.Cys186Ser

cDNA level identifier (NM_004172):

c.556T>A

Gene level identifier:

g.67726T>A

Archive identifier/Other designation:

C186S

Reference, alternative allele:

T, A

Genomic location hg(19)

5:36674182 (not available on ExAC)

Gene name:

SLC1A3

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).