Variant #0000794286 (NC_000004.11:g.122782713_122782714del, BBS7(NM_176824.2):c.288_289del)

Individual ID 00379812
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.122782713_122782714del
DNA change (hg38) g.121861558_121861559del
Published as NM_176824.2:c.288_289del, NP_789794.1:p.(Gly97LysfsTer7), NC_000004.11:g.122782713_122782714del
ISCN -
DB-ID BBS7_000070 See all 2 reported entries
Variant remarks -
Reference PubMed: Wang 2018
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 Anna Tracewska
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BBS7 NM_176824.2 +/. 4 c.288_289del r.(?) p.(Gly97Lysfs*7)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000381014 DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD BBS7 2 LOVD