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     
+/. - c.655G>A pathogenic r.(?) p.(Asp219Asn) g.48340103G>A - FTSJ1(NM_012280.2):c.655G>A (p.Glu191_Tyr218del) - FTSJ1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 9 c.655G>A pathogenic (recessive) r.(572_655del) p.? g.48340103G>A g.48481715G>A Asp219Asn - FTSJ1_000015 sequence Fig.2 does not show r.572_655del but r.(572_661del PubMed: Freude 2004 - - Germline yes - - 0 - Johan den Dunnen
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