Variant #0000261405 (NC_000004.11:g.123663836C>A, BBS12(NM_001178007.1):c.789C>A)

Chromosome 4
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.123663836C>A
DNA change (hg38) g.122742681C>A
Published as BBS12(NM_152618.3):c.789C>A (p.Y263*)
ISCN -
DB-ID BBS12_000048
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BBS12 NM_001178007.1 +/. - c.789C>A r.(?) p.(Tyr263Ter)