Mutation details:

cDNA level identifier:

c.(-370-519816)_(-265-58243)del

Genome level identifier:

g.1-519816_58349

Archive identifier/Other designation:

deletion of promotor and exon 1

Reference, alternative allele:

A+578164bp, A

Genetic location (hg19):

chr8:42338720 (not available on ExAC)

Gene name:

SLC20A2

Consequence:

unknown effect

Pathogenicity scoring:

probably pathogenic

CADD score:

50

Positive functional evidence:

not available

Diseases reported for this mutation:

PFBC-SLC20A2

Number of all included cases:

2 heterozygous (2 in total).

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