Variant #0000765433 (NC_000001.10:g.103471627_103471628del, COL11A1(NM_001190709.1):c.1670_1671del)

Individual ID 00363340
Chromosome 1
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.103471627_103471628del
DNA change (hg38) g.103006071_103006072del
Published as -
ISCN -
DB-ID COL11A1_000290
Variant remarks not in 624 control chromosomes
Reference PubMed: Sun 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/596 chromosomes
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL11A1 NM_001190709.1 +/. - c.1670_1671del r.(?) p.(Ala557GlufsTer7)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000364568 DNA SEQ-NG - WES COL11A1 1 LOVD