Variant #0000502325 (NC_000001.10:g.103548505C>T, COL11A1(NM_001190709.1):c.130G>A)

Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.103548505C>T
DNA change (hg38) g.103082949C>T
Published as COL11A1(NM_080629.2):c.130G>A (p.A44T)
ISCN -
DB-ID COL11A1_000182 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) 0.00095 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL11A1 NM_001190709.1 -/. - c.130G>A r.(?) p.(Ala44Thr)
COL11A1 NM_080629.2 -/. - c.130G>A r.(?) p.(Ala44Thr)