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     
+/. - c.4265_4266insTT r.(?) p.(Thr1423*) - pathogenic g.105793025_105793026insAA - COL17A1(NM_000494.4):c.4265_4266insTT (p.T1423*) - COL17A1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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