Variant #0000638796 (NC_000001.10:g.103477995C>A, COL11A1(NM_001190709.1):c.1486G>T)

Individual ID 00281904
Chromosome 1
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.103477995C>A
DNA change (hg38) g.103012439C>A
Published as -
ISCN -
DB-ID COL11A1_000250
Variant remarks -
Reference MORL Deafness Variation Database, PubMed: Acke 2014
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Global Variome, with Curator vacancy
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL11A1 NM_001190709.1 +/+ 13 c.1486G>T r.(?) p.(Gly496Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000283054 DNA ? - - COL11A1 1 Global Variome, with Curator vacancy