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.3000_3008del r.(?) p.(Pro1003_Gly1005del) - likely pathogenic g.105798240_105798248del g.104038482_104038490del COL17A1(NM_000494.4):c.3000_3008delCCCTGGGCC (p.P1003_G1005del) - COL17A1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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