Mutation details:

Protein level identifier (NP_004727):

p.Leu145Pro

cDNA level identifier (NM_004736):

c.434T>C

Gene level identifier:

g.171595T>C

Reference, alternative allele:

T, C

Genomic location hg(19)

1:180772734 (not available on ExAC)

Gene name:

XPR1

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

25938945; 28766044;

Number of all included cases:

7 heterozygous (7 in total).