Variant #0000502320 (NC_000001.10:g.103544379T>C, COL11A1(NM_001190709.1):c.323A>G)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.103544379T>C
DNA change (hg38) g.103078823T>C
Published as COL11A1(NM_080629.2):c.323A>G (p.K108R)
ISCN -
DB-ID COL11A1_000178
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_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL11A1 NM_001190709.1 -?/. - c.323A>G r.(?) p.(Lys108Arg)
COL11A1 NM_080629.2 -?/. - c.323A>G r.(?) p.(Lys108Arg)