Variant #0000811190 (NC_000004.11:g.123663912G>C, BBS12(NM_001178007.1):c.865G>C)

Individual ID 00383274
Chromosome 4
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.123663912G>C
DNA change (hg38) -
Published as c.865G>C
ISCN -
DB-ID BBS12_000118
Variant remarks -
Reference PubMed: Muller-2010, PubMed: Stoetzel 2007
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BBS12 NM_001178007.1 +?/. 3 c.865G>C r.(?) p.(Ala289Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000384498 DNA SEQ blood - BBS12 1 LOVD