Variant #0000653459 (NC_000010.10:g.105803610C>A, COL17A1(NM_000494.3):c.2407G>T)

Individual ID 00295583
Chromosome 10
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.105803610C>A
DNA change (hg38) g.104043852C>A
Published as -
ISCN -
DB-ID COL17A1_000052
Variant remarks ACMG: PVS1,PM2; no second variant detected
Reference -
ClinVar ID -
dbSNP ID rs752317971
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL17A1 NM_000494.3 +?/. - c.2407G>T r.(?) p.(Gly803*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000296753 DNA SEQ-NG-S - - - 1 Andreas Laner