Variant #0000783613 (NC_000003.11:g.93755507C>T, ARL13B(NM_182896.2):c.598C>T)

Individual ID 00372142
Chromosome 3
Allele Parent #2
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.93755507C>T
DNA change (hg38) g.94036663C>T
Published as NM_182896.2:c.598C>T
ISCN -
DB-ID ARL13B_000036
Variant remarks -
Reference PubMed: Bachmann-Gagescu 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
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-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARL13B NM_182896.2 +/. - c.598C>T r.(?) p.(Arg200Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000373371 DNA SEQ - 27-gene panel ARL13B 2 LOVD