All variants in the KYNU gene

Information The variants shown are described using the NM_003937.2 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.-130_(729+923_730-1)[0] r.0? p.0? - pathogenic (recessive) g.(?_143634577)_(143719262_143805643)del - arr[GRCh37]2q22.2(143,634,577-143,719,262)x1 - KYNU_000009 85 kb deletion PubMed: Ehmke 2020 - - Germline - - - - - Johan den Dunnen
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