All variants in the COL17A1 gene

Information The variants shown are described using the NM_000494.3 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     
+/. 4 c.202del r.(202del) p.(Thr68Leufs*106) - pathogenic g.105837181del g.104077423del 202delA - COL17A1_000036 - - - - Germline yes - - 0 - Amir Hossein Saeidian
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