All variants in the COL17A1 gene

Information The variants shown are described using the NM_000494.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

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.1179del r.(?) p.(Ala394LeufsTer9) - pathogenic g.105819440del g.104059682del COL17A1(NM_000494.4):c.1179delA (p.A394Lfs*9) - COL17A1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.1179del r.(?) p.(Ala394LeufsTer9) - pathogenic g.105819440del g.104059682del COL17A1(NM_000494.4):c.1179delA (p.A394Lfs*9) - COL17A1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
Legend   How to query