Mutation details:

Protein level identifier (NP_004727):

p.Leu140Pro

cDNA level identifier (NM_004736):

c.419T>C

Gene level identifier:

g.171580T>C

Reference, alternative allele:

T, C

Genomic location hg(19)

1:180772719 (not available on ExAC)

Gene name:

XPR1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

25938945;

Number of all included cases:

1 heterozygous (1 in total).

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