Variant #0000818631 (NC_000004.11:g.122768595del, BBS7(NM_176824.2):c.1002delT)

Individual ID 00388298
Chromosome 4
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.122768595del
DNA change (hg38) g.121847440del
Published as c.1002delT, p.N335Ifs*47
ISCN -
DB-ID BBS7_000069 See all 5 reported entries
Variant remarks Compound heterozygous
Reference PubMed: Tao 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BBS7 NM_176824.2 +/. - c.1002delT r.(?) p.(Asn335Ilefs*47)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000389539 DNA SEQ-NG-I;SEQ blood targeted panel-based next-generation sequencing, 441 hereditary eye disease genes BBS7 2 LOVD