Mutation details:

cDNA level identifier:

c.801-2A>G

Genome level identifier:

g.137492A>G

Reference, alternative allele:

A, G

Genetic location (hg19):

chr1:165851393 (not available on ExAC)

Gene name:

DNAJC6

Consequence:

splice site

Pathogenicity scoring:

probably pathogenic

CADD score:

24

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).

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