Mutation details:

Protein level identifier (NP_004163):

p.Thr318Ala

cDNA level identifier (NM_004172):

c.952A>G

Gene level identifier:

g.73364A>G

Archive identifier/Other designation:

T318A

Reference, alternative allele:

A, G

Genomic location hg(19)

5:36679820

Gene name:

SLC1A3

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).