Variant #0000079682 (NC_000004.11:g.122791455A>T, BBS7(NM_176824.2):c.14T>A)

Individual ID 00050583
Chromosome 4
Allele Paternal (confirmed)
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.122791455A>T
DNA change (hg38) g.121870300A>T
Published as -
ISCN -
DB-ID BBS7_000005
Variant remarks -
Reference PubMed: DDDS 2015, Journal: DDDS 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
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.14T>A r.(?) p.(Leu5*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050528 DNA SEQ;SEQ-NG-I - - BBS7 2 Johan den Dunnen