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.2407G>T r.(?) p.(Gly803*) ACMG likely pathogenic g.105803610C>A g.104043852C>A - - COL17A1_000052 ACMG: PVS1,PM2; no second variant detected - - rs752317971 Germline - - - 0 - Andreas Laner
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