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.57_59+16dup r.spl p.(?) ACMG VUS g.93699324_93699342dup g.93980480_93980498dup ARL13B, c.57_59+16dupCAGGTAGGCTGGAGCCAGC, , homozygous - ARL13B_000041 - PubMed: Perea-Romero 2021 - - Unknown ? - - 0 - LOVD
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