Mutation details:

Protein level identifier (n.a.):

p.Thr151Glyfs*2

cDNA level identifier (n.a.):

c.448_452delAGAAC

Gene level identifier:

g.1098_1102delAGAAC

Reference, alternative allele:

CAGAAC, C

Genomic location hg(0)

2:73115585 (not available on ExAC)

Gene name:

SPR

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).

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