Variant #0000814526 (NC_000004.11:g.122770055T>G, BBS7(NM_176824.2):c.878A>C)

Individual ID 00385565
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.122770055T>G
DNA change (hg38) -
Published as c.878A>C(H)
ISCN -
DB-ID BBS7_000059 See all 3 reported entries
Variant remarks Family AR14 (A2824) has previously been published for a heterozygous change in BBS12 (p.G540D) present in individual ‘-04’ (but not ‘-08’) by Stoetzel et al. 2007
Reference PubMed: Janssen-2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 0.046
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 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     
BBS7 NM_176824.2 +/. 9 c.878A>C r.(?) p.(Gln293Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000386794 DNA SEQ;HD - SEQ or HD BBS7 1 LOVD