Variant #0000817536 (NC_000004.11:g.122774232C>T, BBS7(NM_176824.2):c.728G>A)

Individual ID 00387552
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.122774232C>T
DNA change (hg38) -
Published as p.Cys243Tyr
ISCN -
DB-ID BBS7_000071 See all 8 reported entries
Variant remarks -
Reference PubMed: Knopp 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-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     
BBS7 NM_176824.2 +?/. 8 c.728G>A r.(?) p.(Cys243Tyr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000388778 DNA arraySNP;SEQ-NG;PCR blood - BBS7 1 LOVD