Variant #0000813968 (NC_000004.11:g.122775864_122775867delCTCT, BBS7(NM_176824.2):c.710_713delAGAG)

Individual ID 00385219
Chromosome 4
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification unclassified
DNA change (genomic) (Relative to hg19 / GRCh37) g.122775864_122775867delCTCT
DNA change (hg38) -
Published as c.710_713delAGAG
ISCN -
DB-ID BBS7_000085
Variant remarks -
Reference PubMed: Chen-2011
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 LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BBS7 NM_176824.2 +?/. 7 c.710_713delAGAG r.(?) p.(Arg238Glufs*59)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000386448 DNA SEQ blood - BBS7 1 LOVD