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     
-?/. 10 c.738G>A - r.(?) p.(Ser246=) g.48340873G>A - S246S - FTSJ1_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 families - 0 - Lucy Raymond
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