Variant #0000813139 (NC_000004.11:g.?, BBS12(NM_001178007.1):c.?)

Individual ID 00384718
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.?
DNA change (hg38) -
Published as [K243IfsX15]+[K243IfsX15]
ISCN -
DB-ID TRAPPC11_000000 See all 79 reported entries
Variant remarks -
Reference PubMed: Billingsley-2010
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BBS12 NM_001178007.1 +/. - c.? r.(?) p.K243IfsX15



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000385944 DNA SEQ blood - BBS12 1 LOVD