Variant #0000826455 (NC_000004.11:g.123663742_123663778del, BBS12(NM_001178007.1):c.695_731del)

Individual ID 00393968
Chromosome 4
Allele Both (homozygous)
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.123663742_123663778del
DNA change (hg38) -
Published as c.695_731del37
ISCN -
DB-ID BBS12_000156
Variant remarks -
Reference PubMed: Strong-2020
ClinVar ID -
dbSNP ID -
Origin Unknown
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     
BBS12 NM_001178007.1 +/. 3 c.695_731del r.(?) p.(Ile232Lysfs*3)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000395216 DNA SEQ-NG - - BBS12 1 LOVD