Variant #0000266912 (NC_000010.10:g.105801253G>A, COL17A1(NM_000494.3):c.2595C>T)

Chromosome 10
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.105801253G>A
DNA change (hg38) g.104041495G>A
Published as COL17A1(NM_000494.4):c.2595C>T (p.R865=)
ISCN -
DB-ID COL17A1_000016
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.77577 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.2595C>T r.(?) p.(Arg865=)