Variant #0000824916 (NC_000004.11:g.122774232C>T, BBS7(NM_176824.2):c.728G>A)

Individual ID 00392775
Chromosome 4
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.122774232C>T
DNA change (hg38) g.121853077C>T
Published as BBS7 c.728G > A, p.C243Y
ISCN -
DB-ID BBS7_000071 See all 8 reported entries
Variant remarks heterozygous
Reference PubMed: Meng 2021
ClinVar ID -
dbSNP ID rs727503821
Origin Germline
Segregation yes
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 Anna Tracewska
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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     
0000394022 DNA SEQ-NG-I blood 131 known inherited retinal disease genes BBS7 2 LOVD