All variants in the ARL13B gene

Information The variants shown are described using the NM_182896.2 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/. - c.568A>G r.(?) p.(Ile190Val) - likely pathogenic g.93755477A>G g.94036633A>G ARL13B/JBTS8 c.259A>G, p.Ile87Val - ARL13B_000042 different transcript: NM_001174151.1(ARL13B):c.259A>G, p.(Ile87Val); single heterozygous variant in a recessive disease; no second causative allele found PubMed: Kang 2016 - - Unknown ? - - 0 - LOVD
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