Mutation details:

Protein level identifier:

p.Leu7Phefs*10

cDNA level identifier:

c.21delG

Genome level identifier:

g.67182_67182delG

Archive identifier/Other designation:

p.L7Ffs*10

Reference, alternative allele:

AC, A

Genetic location (hg19):

chr8:42329887 (not available on ExAC)

Gene name:

SLC20A2

Consequence:

frameshift

Pathogenicity scoring:

probably pathogenic

CADD score:

26

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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