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.598C>T r.(?) p.(Arg200Cys) - pathogenic g.93755507C>T g.94036663C>T NM_182896.2:c.598C>T - ARL13B_000036 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - LOVD
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