Variant #0000651389 (NC_000004.11:g.122780285_122780286del, BBS7(NM_176824.2):c.389_390del)

Individual ID 00293532
Chromosome 4
Allele Parent #1
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.122780285_122780286del
DNA change (hg38) g.121859130_121859131del
Published as -
ISCN -
DB-ID BBS7_000051 See all 3 reported entries
Variant remarks 1 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs863224530
Origin Germline
Segregation -
Frequency 1/2791 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Mohammed Faruq
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.389_390del r.(?) p.(Asn130Thrfs*4)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000294700 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq