Variant #0000734378 (NC_000001.10:g.103471423G>T, COL11A1(NM_001190709.1):c.1699C>A)

Individual ID 00334454
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.103471423G>T
DNA change (hg38) g.103005867G>T
Published as -
ISCN -
DB-ID COL11A1_000284
Variant remarks -
Reference PubMed: Huang 2017
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL11A1 NM_001190709.1 ?/. - c.1699C>A r.(?) p.(Pro567Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000335683 DNA SEQ-NG - WES COL11A1, HMCN1 2 LOVD