Variant #0000539015 (NC_000010.10:g.105833001A>T, COL17A1(NM_000494.3):c.382T>A)

Chromosome 10
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.105833001A>T
DNA change (hg38) g.104073243A>T
Published as COL17A1(NM_000494.4):c.382T>A (p.S128T)
ISCN -
DB-ID COL17A1_000046
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) 2.0E-5 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL17A1 NM_000494.3 -?/. - c.382T>A r.(?) p.(Ser128Thr)