Variant #0000604617 (NC_000001.10:g.103470046T>C, COL11A1(NM_001190709.1):c.1783-2A>G)

Chromosome 1
Allele Unknown
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.103470046T>C
DNA change (hg38) g.103004490T>C
Published as -
ISCN -
DB-ID COL11A1_000192
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL11A1 NM_001190709.1 +/. - c.1783-2A>G r.spl? p.?
COL11A1 NM_080629.2 +/. - c.1936-2A>G r.spl? p.?