Mutation details:

Protein level identifier:

p.Ser136Asn

cDNA level identifier:

c.407G>A

Genome level identifier:

g.171568G>A

Reference, alternative allele:

G, A

Genetic location (hg19):

chr1:180772707 (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:

1 heterozygous (1 in total).

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