All variants in the OBSL1 gene

Information The variants shown are described using the NM_001173408.1 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.*4023C>T r.(=) p.(=) - likely benign g.220422583G>A g.219557861G>A OBSL1(NM_001173408.1):c.*4023C>T (p.(=)) - OBSL1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*4023C>T r.(=) p.(=) - VUS g.220422583G>A g.219557861G>A - - OBSL1_000032 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145485683 Germline - 5/2793 individuals - 0 - Mohammed Faruq
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