Variant #0000037592 (NC_000003.11:g.93722629A>G, ARL13B(NM_182896.2):c.257A>G)

Individual ID 00017612
Chromosome 3
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.93722629A>G
DNA change (hg38) g.94003785A>G
Published as -
ISCN -
DB-ID ARL13B_000004
Variant remarks -
Reference Thomas et al., EJHG, 2014, submitted
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Tania Attie-Bitach
Database submission license No license selected
Created by Tania Attie-Bitach
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARL13B NM_182896.2 +/. 3 c.257A>G r.(?) p.(Tyr86Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000017595 DNA SEQ Blood - - 1 Tania Attie-Bitach