Variant #0000668949 (NC_000001.10:g.103548497A>C, COL11A1(NM_001190709.1):c.138T>G)

Individual ID 00304132
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.103548497A>C
DNA change (hg38) g.103082941A>C
Published as -
ISCN -
DB-ID COL11A1_000100 See all 4 reported entries
Variant remarks 3 homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs11164663
Origin Germline
Segregation -
Frequency 3/2789 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.06081 View details
Owner Mohammed Faruq
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.138T>G r.(?) p.(Asp46Glu)
COL11A1 NM_080629.2 -/. - c.138T>G r.(?) p.(Asp46Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000305261 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq