Mutation details:

Protein level identifier (NP_004163):

p.Val393Ile

cDNA level identifier (NM_004172):

c.1177G>A

Gene level identifier:

g.74123G>A

Archive identifier/Other designation:

V393I

Reference, alternative allele:

G, A

Genomic location hg(19)

5:36680579

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:

2 heterozygous (2 in total).