Variant #0000819016 (NC_000004.11:g.122774232C>T, BBS7(NM_176824.2):c.728G>A)

Individual ID 00388530
Chromosome 4
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.122774232C>T
DNA change (hg38) g.121853077C>T
Published as BBS7 p.C243Y, homo
ISCN -
DB-ID BBS7_000071 See all 8 reported entries
Variant remarks no c. position written in publication, probable position given - RCV001384254.1
Reference PubMed: Hirano 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BBS7 NM_176824.2 +?/. - c.728G>A r.(?) p.(Cys243Tyr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000389772 DNA SEQ-NG-I;SEQ blood whole exome sequencing BBS7 1 LOVD