Variant #0000673965 (NC_000010.10:g.105805551dup, COL17A1(NM_000494.3):c.2363dup)

Individual ID 00306211
Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.105805551dup
DNA change (hg38) -
Published as 2363dupG
ISCN -
DB-ID COL17A1_000055
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Sha Hong
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL17A1 NM_000494.3 +/+ - c.2363dup r.(?) p.(Leu789Thrfs*13)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000307344 DNA SEQ-NG - - COL17A1 2 Sha Hong