Variant #0000830075 (NC_000004.11:g.123663112T>C, BBS12(NM_001178007.1):c.65T>C)

Individual ID 00396621
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.123663112T>C
DNA change (hg38) -
Published as c.[65T>C];[65T>C]
ISCN -
DB-ID BBS12_000159 See all 2 reported entries
Variant remarks -
Reference PubMed: Mary-2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BBS12 NM_001178007.1 +/. 3 c.65T>C r.(?) p.(Phe22Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000397864 DNA SEQ - - BBS12 2 LOVD