Variant #0000845931 (NC_000003.11:g.93755477A>G, ARL13B(NM_182896.2):c.568A>G)

Individual ID 00407667
Chromosome 3
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.93755477A>G
DNA change (hg38) g.94036633A>G
Published as ARL13B/JBTS8 c.259A>G, p.Ile87Val
ISCN -
DB-ID ARL13B_000042
Variant remarks different transcript: NM_001174151.1(ARL13B):c.259A>G, p.(Ile87Val); single heterozygous variant in a recessive disease; no second causative allele found
Reference PubMed: Kang 2016
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00045 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARL13B NM_182896.2 +?/. - c.568A>G r.(?) p.(Ile190Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000408919 DNA SEQ-NG-I - targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD ARL13B 1 LOVD