All variants in the NR0B1 gene

Information The variants shown are described using the NM_000475.4 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.848_849insAAAAAA r.(?) p.(Gln283_Leu284insLysLys) - pathogenic g.30326633_30326634insTTTTTT g.30308516_30308517insTTTTTT NR0B1(NM_000475.5):c.848_849insAAAAAA (p.Q283_L284insKK) - NR0B1_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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