Mutation details:

Protein level identifier:

p.Leu87Pro

cDNA level identifier:

c.260Tæ>æC

Genome level identifier:

g.171421T>C

Reference, alternative allele:

T, C

Genetic location (hg19):

chr1:180772560 (not available on ExAC)

Gene name:

XPR1

Consequence:

missense

Pathogenicity scoring:

probably pathogenic

CADD score:

27

Positive functional evidence:

25938945

Diseases reported for this mutation:

PFBC-XPR1

Number of all included cases:

2 heterozygous (2 in total).

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