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.
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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.4304C>T r.(?) p.(Ala1435Val) - likely benign g.105792717G>A g.104032959G>A COL17A1(NM_000494.3):c.4304C>T (p.(Ala1435Val)), COL17A1(NM_000494.4):c.4304C>T (p.A1435V) - COL17A1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.4304C>T r.(?) p.(Ala1435Val) - likely benign g.105792717G>A g.104032959G>A COL17A1(NM_000494.3):c.4304C>T (p.(Ala1435Val)), COL17A1(NM_000494.4):c.4304C>T (p.A1435V) - COL17A1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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