Variant #0000169302 (NC_000001.10:g.103481286G>A, COL11A1(NM_001190709.1):c.1309C>T)

Individual ID 00104003
Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.103481286G>A
DNA change (hg38) g.103015730G>A
Published as NM_080629.2(COL11A1):c.1462C>T p.(Arg488Cys)
ISCN -
DB-ID COL11A1_000007 See all 2 reported entries
Variant remarks variant could not be associated with disease phenotype
Reference PubMed: Vogelaar 2017, Journal: Vogelaar 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Marjolijn JL Ligtenberg
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL11A1 NM_001190709.1 ./. - c.1309C>T r.(?) p.(Arg437Cys)
COL11A1 NM_080629.2 ./. - c.1462C>T r.(?) p.(Arg488Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000104474 DNA SEQ-NG - - - 5 Marjolijn JL Ligtenberg