Variant #0000735179 (NC_000001.10:g.?, COL11A1(NM_001190709.1):c.?)

Individual ID 00100087
Chromosome 1
Allele Both (homozygous)
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 1944+11T>C
ISCN -
DB-ID NPHS2_000000 See all 182 reported entries
Variant remarks -
Reference PubMed: Maranha 2015, Journal: Maranhao 2015
ClinVar ID -
dbSNP ID rs71664954
Origin Germline
Segregation -
Frequency -
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 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.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000100490 DNA SEQ WBC - USH2A 4 James Hejtmancik