All variants in the OBSL1 gene

Information The variants shown are described using the NM_001173408.1 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.951C>A r.(?) p.(Tyr317*) - likely pathogenic (recessive) g.220435004G>T g.219570282G>T NM_015311.2:c.951C>A:p.(Tyr317*) - OBSL1_000066 - PubMed: Maddirevula 2018 - - Germline - - - 0 - LOVD
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