Variant #0000245529 (NC_000001.10:g.103488342A>G, COL11A1(NM_001190709.1):c.1084T>C)

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.103488342A>G
DNA change (hg38) g.103022786A>G
Published as COL11A1(NM_080629.2):c.1237T>C (p.F413L)
ISCN -
DB-ID COL11A1_000072
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 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.1084T>C r.(?) p.(Phe362Leu)
COL11A1 NM_080629.2 -?/. - c.1237T>C r.(?) p.(Phe413Leu)