All variants in the GDI1 gene

Information The variants shown are described using the NM_001493.2 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
./. - c.1186_1187del r.(?) p.(Ser396Profs*15) - pathogenic g.153670770_153670771del g.154442423_154442424del GDI1 S396Pfs*15 - GDI1_000012 - PubMed: Hu 2016 - - Germline yes - - 0 - Johan den Dunnen
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