Variant #0000171266 (NC_000003.11:g.93722595G>A, ARL13B(NM_182896.2):c.223G>A)

Individual ID 00105223
Chromosome 3
Allele Both (homozygous)
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.93722595G>A
DNA change (hg38) g.94003751G>A
Published as -
ISCN -
DB-ID ARL13B_000005 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Rafiullah Rafiullah
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 +/. 3 c.223G>A r.(?) p.(Gly75Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000105809 DNA SEQ - - ARL13B 1 Rafiullah Rafiullah