Variant #0000735590 (NC_000004.11:g.123664102A>C, BBS12(NM_001178007.1):c.1055A>C)

Individual ID 00335086
Chromosome 4
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.123664102A>C
DNA change (hg38) g.122742947A>C
Published as NM_152618.2:1055A>C (Gln352Pro)
ISCN -
DB-ID BBS12_000098 See all 4 reported entries
Variant remarks -
Reference PubMed: Haer-Wigman 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 5.0E-5 View details
Owner LOVD
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.1055A>C r.(?) p.(Gln352Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000336315 DNA SEQ-NG - gene panel BBS12 2 LOVD