Variant #0000729864 (NC_000001.10:g.103468825C>G, COL11A1(NM_001190709.1):c.1828-1G>C)

Individual ID 00331363
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.103468825C>G
DNA change (hg38) g.103003269C>G
Published as NM_001854.3:c.1945-1G>C
ISCN -
DB-ID COL11A1_000281
Variant remarks -
Reference PubMed: Maddirevula 2018
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
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.1828-1G>C r.spl? p.?
COL11A1 NM_080629.2 +/. - c.1981-1G>C r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000332582 DNA SEQ;SEQ-NG - WES COL11A1 1 LOVD