Variant #0000722659 (NC_000010.10:g.105793025_105793026insAA, COL17A1(NM_000494.3):c.4265_4266insTT)

Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.105793025_105793026insAA
DNA change (hg38) -
Published as COL17A1(NM_000494.4):c.4265_4266insTT (p.T1423*)
ISCN -
DB-ID COL17A1_000057
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL17A1 NM_000494.3 +/. - c.4265_4266insTT r.(?) p.(Thr1423*)
SLK NM_014720.2 +/. - c.*7547_*7548insAA r.(=) p.(=)