Variant #0000266909 (NC_000010.10:g.105806506C>G, COL17A1(NM_000494.3):c.2361G>C)

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.105806506C>G
DNA change (hg38) g.104046748C>G
Published as COL17A1(NM_000494.4):c.2361G>C (p.Q787H)
ISCN -
DB-ID COL17A1_000019
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) 0.00058 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.2361G>C r.(?) p.(Gln787His)