Mutation details:

Protein level identifier:

p.Trp616*

cDNA level identifier:

c.1848G>A

Genome level identifier:

g.121638G>A

Archive identifier/Other designation:

p.W616*

Reference, alternative allele:

C, T

Genetic location (hg19):

chr8:42275432 (not available on ExAC)

Gene name:

SLC20A2

Consequence:

nonsense

Pathogenicity scoring:

probably pathogenic

CADD score:

48

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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