Variant #0000834081 (NC_000004.11:g.123663222del, BBS12(NM_001178007.1):c.175del)

Individual ID 00399795
Chromosome 4
Allele Paternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.123663222del
DNA change (hg38) g.122742067del
Published as c.173(exon3)delA
ISCN -
DB-ID BBS12_000161
Variant remarks -
Reference PubMed: Tang 2022, Journal: Tang 2022
ClinVar ID -
dbSNP ID rs1197816407
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
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     
BBS12 NM_001178007.1 +?/. 3 c.175del r.(?) p.(Ser59ValfsTer4)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000401038 DNA SEQ;SEQ-NG - WES - 2 Johan den Dunnen