Variant #0000687720 (NC_000001.10:g.103427417C>G, NC_000001.10(NM_001854.3):c.3168+5G>C (COL11A1))

Individual ID 00311016
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.103427417C>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID COL11A1_000267 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Lucia Micale
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Lucia Micale
Date created 2020-09-14 09:51:11 +02:00 (CEST)
Date last edited 2020-09-14 14:45:07 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL11A1 NM_001854.3 +/. - c.3168+5G>C r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000312168 DNA SEQ-NG blood - - 1 Lucia Micale


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