All transcript variants in gene FTSJ1

Information The variants shown are described using the NM_012280.2 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     
+/. _1_13 c.(?_-27715)_(15_*1370)del pathogenic (recessive) r.0? p.0? g.48307157_48336450del - - - FTSJ1_000019 - PubMed: Froyen 2007 - - Germline yes - - 0 - Johan den Dunnen
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