Mutation details:

Protein level identifier (NP_004727):

p.Arg459Cys

cDNA level identifier (NM_004736):

c.1375C>T

Gene level identifier:

g.204587C>T

Reference, alternative allele:

C, T

Genomic location hg(19)

1:180805726 (not available on ExAC)

Gene name:

XPR1

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).

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