Mutation details:

Protein level identifier:

p.Ile74Asn

cDNA level identifier:

c.220dupA

Genome level identifier:

g.67381dupA

Archive identifier/Other designation:

p.I74Nfs*3

Reference, alternative allele:

T, TT

Genetic location (hg19):

chr8:42329689 (not available on ExAC)

Gene name:

SLC20A2

Consequence:

frameshift

Pathogenicity scoring:

probably pathogenic

CADD score:

33

Positive functional evidence:

not available

Diseases reported for this mutation:

PFBC-SLC20A2

Number of all included cases:

1 heterozygous (1 in total).

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