Variant #0000255365 (NC_000001.10:g.103488352del, COL11A1(NM_001190709.1):c.1074del)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.103488352del
DNA change (hg38) g.103022796del
Published as COL11A1(NM_080629.2):c.1227delT (p.N410Mfs*19)
ISCN -
DB-ID COL11A1_000074 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 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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.1074del r.(?) p.(Asn359MetfsTer19)
COL11A1 NM_080629.2 +?/. - c.1227del r.(?) p.(Asn410MetfsTer19)