All variants in the NR0B1 gene

Information The variants shown are described using the NM_000475.4 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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     
?/. 1 c.376G>A r.(?) p.(Val126Met) - VUS g.30327105C>T g.30308988C>T - - NR0B1_000032 - PubMed: Kinoshita 1997 - - Germline yes - - 0 - Bert Bakker
-/. - c.376G>A r.(?) p.(Val126Met) - benign g.30327105C>T g.30308988C>T NR0B1(NM_000475.4):c.376G>A (p.V126M, p.(Val126Met)) - NR0B1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.376G>A r.(?) p.(Val126Met) - likely benign g.30327105C>T g.30308988C>T NR0B1(NM_000475.4):c.376G>A (p.V126M, p.(Val126Met)) - NR0B1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.376G>A r.(?) p.(Val126Met) - likely benign g.30327105C>T g.30308988C>T - - NR0B1_000032 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.044 - 0 - Global Variome, with Curator vacancy
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