Variant #0000811234 (NC_000004.11:g.123664619A>G, BBS12(NM_001178007.1):c.1572A>G)

Individual ID 00383301
Chromosome 4
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.123664619A>G
DNA change (hg38) -
Published as BBS12: c.1572A>G
ISCN -
DB-ID BBS12_000125
Variant remarks A not found at position 1953, found T instead.
Reference PubMed: Duelund Hjortshoj-2010
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 0/100 ethnically matched control chromosomes
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.1572A>G r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000384525 DNA;RNA DHPLC;arraySNP;RT-PCR blood - BBS12 2 LOVD