Mutation details:

Protein level identifier:

p.Leu145Pro

cDNA level identifier:

c.434T>C

Genome level identifier:

g.171595T>C

Reference, alternative allele:

T, C

Genetic location (hg19):

chr1:180772734 (not available on ExAC)

Gene name:

XPR1

Consequence:

missense

Pathogenicity scoring:

probably pathogenic

CADD score:

29

Positive functional evidence:

25938945

Diseases reported for this mutation:

PFBC-XPR1

Number of all included cases:

7 heterozygous (7 in total).

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