Variant #0000811698 (NC_000004.11:g.122774197T>A, BBS7(NM_176824.2):c.763A>T)

Individual ID 00383654
Chromosome 4
Allele Both (homozygous)
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.122774197T>A
DNA change (hg38) g.121853042T>A
Published as BBS7 c.763A>T, p.(Lys255*)
ISCN -
DB-ID BBS7_000075
Variant remarks homozygous
Reference PubMed: Manara 2019
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BBS7 NM_176824.2 +/. 8 c.763A>T c.763A>T p.(Lys255*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000384879 DNA SEQ-NG;SEQ blood;saliva panel containing 18 BBS genes BBS7 1 LOVD