Variant #0000786475 (NC_000004.11:g.122782802A>C, BBS7(NM_176824.2):c.198T>G)

Individual ID 00373881
Chromosome 4
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.122782802A>C
DNA change (hg38) g.121861647A>C
Published as -
ISCN -
DB-ID BBS7_000066 See all 2 reported entries
Variant remarks -
Reference PubMed: Consugar 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
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.198T>G r.(?) p.(Ile66Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000375113 DNA SEQ-NG - 238-gene panel BBS7 2 LOVD