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.1274dup r.(?) p.(Val426Serfs*39) - pathogenic g.220432785dup g.219568064dup - - OBSL1_000057 2 heterozygous, no homozygous; Clinindb (India) Variant Error EBUILDMISMATCH: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. PubMed: Narang 2020, Journal: Narang 2020 - rs762334954 Germline - 2/2795 individuals - 0 - Mohammed Faruq
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