Variant #0000709008 (NC_000001.10:g.103470201_103471403delinsA, COL11A1(NM_001190709.1):c.1719_1745delinsT)

Individual ID 00324654
Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.103470201_103471403delinsA
DNA change (hg38) -
Published as -
ISCN -
DB-ID COL11A1_000272
Variant remarks ACMG: PVS1, PM2 class 4
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL11A1 NM_001190709.1 +?/. - c.1719_1745delinsT r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000325853 DNA SEQ-NG-I - - COL11A1 1 Andreas Laner