Variant #0000828530 (NC_000003.11:g.93699324_93699342dup, ARL13B(NM_182896.2):c.57_59+16dup)

Individual ID 00395600
Chromosome 3
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.93699324_93699342dup
DNA change (hg38) g.93980480_93980498dup
Published as ARL13B, c.57_59+16dupCAGGTAGGCTGGAGCCAGC, , homozygous
ISCN -
DB-ID ARL13B_000041
Variant remarks -
Reference PubMed: Perea-Romero 2021
ClinVar ID -
dbSNP ID -
Origin Unknown
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 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARL13B NM_182896.2 ?/. - c.57_59+16dup r.spl p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000396838 DNA ? - clinical exome sequencing ARL13B 1 LOVD