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     
+/. 3i c.192-2A>G pathogenic (recessive) r.192_282del p.? g.48337003A>G g.48478615A>G IVS3-2A>G - FTSJ1_000018 - PubMed: Ramser 2004 - - Germline yes - - 0 - Johan den Dunnen
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