All variants in the JAGN1 gene

Information The variants shown are described using the NM_032492.3 transcript reference sequence.

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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.403G>A r.(?) p.(Ala135Thr) - benign g.9934912G>A g.9893228G>A - - JAGN1_000009 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61746084 Germline - 1/2794 individuals - - - Mohammed Faruq
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