Variant #0000784644 (NC_000001.10:g.?, COL11A1(NM_001190709.1):c.?)

Individual ID 00372675
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.?
DNA change (hg38) -
Published as c.2098-6A>C
ISCN -
DB-ID NPHS2_000000 See all 182 reported entries
Variant remarks 0/1266 control chromosomes
Reference PubMed: Xu 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/314 case chromosomes
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL11A1 NM_001190709.1 ?/. - c.? r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000373907 DNA SEQ-NG - gene panel - 6 LOVD