Variant #0000021266 (NC_000001.10:g.103471820del, COL11A1(NM_001190709.1):c.1620-2del)

Individual ID 00002994
Chromosome 1
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.103471820del
DNA change (hg38) g.103006264del
Published as -
ISCN -
DB-ID COL11A1_000001
Variant remarks -
Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message.
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Marcel Nelen
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL11A1 NM_001190709.1 +?/? - c.1620-2del r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000002900 DNA SEQ - - COL11A1 1 Marcel Nelen