Variant #0000129051 (NC_000001.10:g.103474074del, COL11A1(NM_001190709.1):c.1513-2del)

Individual ID 00080062
Chromosome 1
Allele Parent #1
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.103474074del
DNA change (hg38) g.103008518del
Published as -
ISCN -
DB-ID COL11A1_000006 See all 4 reported entries
Variant remarks -
Reference PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Mieke Wesdorp
Database submission license No license selected
Created by Mieke Wesdorp
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL11A1 NM_001190709.1 +?/. - c.1513-2del r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000080141 DNA SEQ-NG - - - 1 Mieke Wesdorp