Variant #0000502296 (NC_000001.10:g.103471824T>A, COL11A1(NM_001190709.1):c.1614A>T)

Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.103471824T>A
DNA change (hg38) g.103006268T>A
Published as -
ISCN -
DB-ID COL11A1_000162
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) 0 View details
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.1614A>T r.(?) p.(Gly538=)
COL11A1 NM_080629.2 ?/. - c.1767A>T r.(?) p.(Gly589=)