All variants in the OBSL1 gene

Information The variants shown are described using the NM_001173408.1 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.*3920G>A r.(=) p.(=) - likely benign g.220422686C>T g.219557964C>T OBSL1(NM_001173408.1):c.*3920G>A (p.(=)), OBSL1(NM_015311.3):c.3649G>A (p.E1217K) - OBSL1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.*3920G>A r.(=) p.(=) - benign g.220422686C>T g.219557964C>T OBSL1(NM_001173408.1):c.*3920G>A (p.(=)), OBSL1(NM_015311.3):c.3649G>A (p.E1217K) - OBSL1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.*3920G>A r.(=) p.(=) - VUS g.220422686C>T g.219557964C>T - - OBSL1_000035 conflicting interpretations of pathogenicity; 12 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs72957510 Germline - 12/2789 individuals - 0 - Mohammed Faruq
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