All variants in the ARL13B gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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.1151G>A r.(?) p.(Gly384Glu) - VUS g.93769677G>A g.94050833G>A - - ARL13B_000037 - PubMed: Kroes 2016 - - Germline - - - 0 - LOVD
-?/. - c.1151G>A r.(?) p.(Gly384Glu) - likely benign g.93769677G>A - ARL13B(NM_001174150.1):c.1151G>A (p.G384E) - ARL13B_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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