Mutation details:

Protein level identifier:

p.Ser637Arg

cDNA level identifier:

c.1909A>C

Genome level identifier:

g.121699A>C

Archive identifier/Other designation:

p.S637R

Reference, alternative allele:

T, G

Genetic location (hg19):

chr8:42275371 (not available on ExAC)

Gene name:

SLC20A2

Consequence:

missense

Pathogenicity scoring:

probably pathogenic

CADD score:

27

Positive functional evidence:

not available

Diseases reported for this mutation:

PFBC-SLC20A2

Number of all included cases:

4 heterozygous (4 in total).

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