Full data view for gene CUBN

Information The variants shown are described using the NM_001081.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.7837A>C r.(?) p.(Ile2613Leu) Unknown - likely benign g.16948277T>G g.16906278T>G CUBN(NM_001081.3):c.7837A>C (p.I2613L) - CUBN_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7837A>C r.(?) p.(Ile2613Leu) Maternal (confirmed) - likely benign g.16948277T>G g.16906278T>G c.7837A>C (I2613L) - CUBN_000089 - PubMed: Sajan 2019 - - Germline - - - - - DNA SEQ-NG - trio WES RLSDF Pat1 PubMed: Sajan 2019 -generation family, 1 affected, unaffected heterozygous parents - - United States - - - - - 1 Johan den Dunnen
Legend   How to query  

Genomic reference sequence: hg19 (GRCh37)


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.