Variant #0000675384 (NC_000001.10:g.103481286G>A, COL11A1(NM_001190709.1):c.1309C>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.103481286G>A
DNA change (hg38) -
Published as COL11A1(NM_080629.2):c.1462C>T (p.R488C)
ISCN -
DB-ID COL11A1_000007 See all 2 reported entries
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) 2.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




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)