Full data view for gene NR0B1

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

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

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Panel size     

Owner     
?/. 1 c.1129G>A r.(?) p.(Glu377Lys) Parent #1 - VUS g.30326352C>T g.30308235C>T - - NR0B1_000039 - PubMed: Zhang 1998 - - Germline - - - 0 - DNA SEQ - - AHC - PubMed: Zhang 1998 - - - - - - 0 - - 1 Bert Bakker
+?/. - c.1129G>A r.(?) p.(Glu377Lys) Maternal (inferred) ACMG likely pathogenic (recessive) g.30326352C>T - - - NR0B1_000039 ACMG: Class 4 (PS4_MOD, PM1, PS3_SUP, PM2_SUP, PP3) PMID: 11443184, PMID: 28741070, PMID: 23018754 - - Germline ? - - - - DNA SEQ-NG-I - - AHC 177428 - - M ? Hungary - - 0 - - 1 Andreas Laner
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