All transcript variants in gene FTSJ1

Information The variants shown are described using the NM_012280.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. 2 c.76G>C pathogenic (recessive) r.(?) p.(Ala26Pro) g.48336511G>C g.48478123G>C - - FTSJ1_000003 variant functionally analysed PubMed: Guy 2015, Journal: Guy 2015 - - Germline yes - - 0 - Marie Shaw
./. - c.76G>C - r.(?) p.(Ala26Pro) g.48336511G>C - FTSJ1 A26P - FTSJ1_000003 - PubMed: Hu 2016 - - Germline yes - - 0 - Johan den Dunnen
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