All variants in the JAZF1 gene

Information The variants shown are described using the NM_175061.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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.-4711838_*4684769del r.0? p.0? - pathogenic g.23187650_32932034del - - - ADCYAP1R1_000001 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
?/. - c.385+697G>A r.(=) p.(=) - VUS g.27934142C>T g.27894523C>T - - JAZF1_000001 - - - - Germline - - - - - Yu Sun
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