Variant #0000812988 (NC_000004.11:g.123663927T>G, BBS12(NM_001178007.1):c.880T>G)

Individual ID 00384605
Chromosome 4
Allele Maternal (confirmed)
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.123663927T>G
DNA change (hg38) g.122742772T>G
Published as c.880T > G, p. (Tyr294Asp)
ISCN -
DB-ID BBS12_000112
Variant remarks heterozygous
Reference PubMed: Jaffal 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
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 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 +?/. - c.880T>G r.(?) p.(Tyr294Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000385832 DNA SEQ-NG-I blood WES BBS12 3 LOVD