Variant #0000811710 (NC_000004.11:g.123663163T>C, BBS12(NM_001178007.1):c.116T>C)

Individual ID 00383655
Chromosome 4
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.123663163T>C
DNA change (hg38) g.122742008T>C
Published as BBS12 c.116T>C, p.Ile39Thr
ISCN -
DB-ID BBS12_000044 See all 8 reported entries
Variant remarks heterozygous
Reference PubMed: Manara 2019
ClinVar ID -
dbSNP ID rs138036823
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00636 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BBS12 NM_001178007.1 +?/. 2 c.116T>C c.116T>C p.(Ile39Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000384880 DNA SEQ-NG;SEQ blood;saliva panel containing 18 BBS genes BBS2 3 LOVD