All variants in the ARL13B gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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.1186C>G r.(?) p.(Pro396Ala) - likely benign g.93769712C>G g.94050868C>G ARL13B(NM_001174150.1):c.1186C>G (p.P396A) - ARL13B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1186C>G r.(?) p.(Pro396Ala) - VUS g.93769712C>G g.94050868C>G - - ARL13B_000026 heterozygous variant only, does not fit phenotype PubMed: Arno 2017 - - Germline - - - 0 - Johan den Dunnen
?/. - c.1186C>G r.(?) p.(Pro396Ala) - VUS g.93769712C>G g.94050868C>G - - ARL13B_000026 - PubMed: Kroes 2016 - - Germline - - - 0 - LOVD
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