Variant #0000785427 (NC_000003.11:g.93769677G>A, ARL13B(NM_182896.2):c.1151G>A)

Individual ID 00373391
Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.93769677G>A
DNA change (hg38) g.94050833G>A
Published as -
ISCN -
DB-ID ARL13B_000037 See all 2 reported entries
Variant remarks -
Reference PubMed: Kroes 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0014 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     
ARL13B NM_182896.2 ?/. - c.1151G>A r.(?) p.(Gly384Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000374626 DNA SEQ-NG - 22-gene panel ARL13B 1 LOVD