Variant #0000760056 (NC_000012.11:g.76740134T>C, BBS10(NM_024685.3):c.1631A>G)

Individual ID 00358970
Chromosome 12
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.76740134T>C
DNA change (hg38) g.76346354T>C
Published as -
ISCN -
DB-ID BBS10_000101 See all 6 reported entries
Variant remarks -
Reference PubMed: Tiwari 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00763 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     
BBS10 NM_024685.3 ?/. - c.1631A>G r.(?) p.(Asn544Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000360207 DNA SEQ-NG - WES - 7 LOVD