Variant #0000651390 (NC_000004.11:g.123663163T>C, BBS12(NM_001178007.1):c.116T>C)

Individual ID 00293533
Chromosome 4
Allele Parent #1
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.123663163T>C
DNA change (hg38) g.122742008T>C
Published as -
ISCN -
DB-ID BBS12_000044 See all 8 reported entries
Variant remarks conflicting interpretations of pathogenicity; 14 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs138036823
Origin Germline
Segregation -
Frequency 14/2794 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00636 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

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



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000294701 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq