Mutation details:

Protein level identifier:

p.Arg467*

cDNA level identifier:

c.1399C>T

Genome level identifier:

g.102439C>T

Archive identifier/Other designation:

p.R467*

Reference, alternative allele:

G, A

Genetic location (hg19):

chr8:42294631 (not available on ExAC)

Gene name:

SLC20A2

Consequence:

nonsense

Pathogenicity scoring:

probably pathogenic

CADD score:

36

Positive functional evidence:

not available

Diseases reported for this mutation:

PFBC-SLC20A2

Number of all included cases:

2 heterozygous (2 in total).

×