Mutation details:

Protein level identifier (NP_004727):

p.Asn619Asp

cDNA level identifier (NM_004736):

c.1855A>G

Gene level identifier:

g.248119A>G

Reference, alternative allele:

A, G

Genomic location hg(19)

1:180849258 (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).