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.-182674_*2240079del r.0? p.0? - likely pathogenic g.93516594_96012342del - chr3:g.93516594_96012342del - ARL13B_000040 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - 0 - LOVD
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