All transcript variants in gene FGD1

Information The variants shown are described using the NM_004463.2 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
+/? 13 c.2026_2028del - r.(?) p.(Glu676del) g.54476722_54476724del g.54450289_54450291del 2020_2022 delGAG, E674del(inframe) - FGD1_000017 - PubMed: Orrico 2010 - - Germline - ? - 0 - Emmelien Aten
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