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.246G>A r.(?) p.(Trp82*) - pathogenic g.93722618G>A g.94003774G>A NM_182896.2:c.246G>A - ARL13B_000034 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - LOVD
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