Full data view for gene COL11A1

Information The variants shown are described using the transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.138T>G r.(?) p.(Asp46Glu) Unknown - benign g.103548497A>C g.103082941A>C COL11A1(NM_080629.2):c.138T>G (p.D46E) - COL11A1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.138T>G r.(?) p.(Asp46Glu) Unknown - benign g.103548497A>C g.103082941A>C COL11A1(NM_080629.2):c.138T>G (p.D46E) - COL11A1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.138T>G r.(?) p.(Asp46Glu) Parent #1 - benign g.103548497A>C g.103082941A>C - - COL11A1_000100 123 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11164663 Germline - 123/2789 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 123 Mohammed Faruq
-/. - c.138T>G r.(?) p.(Asp46Glu) Both (homozygous) - benign g.103548497A>C g.103082941A>C - - COL11A1_000100 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11164663 Germline - 3/2789 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 3 Mohammed Faruq
Legend   How to query