Variant #0000722660 (NC_000010.10:g.105794405C>T, COL17A1(NM_000494.3):c.3740G>A)

Chromosome 10
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.105794405C>T
DNA change (hg38) -
Published as COL17A1(NM_000494.4):c.3740G>A (p.R1247Q)
ISCN -
DB-ID COL17A1_000058
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) 0.00015 View details
Owner VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL17A1 NM_000494.3 ?/. - c.3740G>A r.(?) p.(Arg1247Gln)