Variant #0000765769 (NC_000004.11:g.122775977T>A, BBS7(NM_176824.2):c.602-2A>T)

Individual ID 00363599
Chromosome 4
Allele Unknown
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.122775977T>A
DNA change (hg38) g.121854822T>A
Published as -
ISCN -
DB-ID BBS7_000064 See all 5 reported entries
Variant remarks -
Reference PubMed: Patel 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
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-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BBS7 NM_176824.2 +?/. - c.602-2A>T r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000364827 DNA SEQ-NG - gene panel BBS7 1 LOVD