Variant #0000539006 (NC_000010.10:g.105798240_105798248del, COL17A1(NM_000494.3):c.3000_3008del)

Chromosome 10
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.105798240_105798248del
DNA change (hg38) g.104038482_104038490del
Published as COL17A1(NM_000494.4):c.3000_3008delCCCTGGGCC (p.P1003_G1005del)
ISCN -
DB-ID COL17A1_000041
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.3000_3008del r.(?) p.(Pro1003_Gly1005del)