Variant #0000685026 (NC_000004.11:g.122789150_122789151del, BBS7(NM_176824.2):c.87_88del)

Individual ID 00308970
Chromosome 4
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.122789150_122789151del
DNA change (hg38) -
Published as c.87_88delCA
ISCN -
DB-ID BBS7_000055 See all 4 reported entries
Variant remarks -
Reference PubMed: Sharon 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/2420 IRD families
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Global Variome, with Curator vacancy
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     
BBS7 NM_176824.2 +/. - c.87_88del r.(?) p.(His29Glnfs*12)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000310115 DNA SEQ - - BBS7 1 Global Variome, with Curator vacancy