Full data view for gene ITGB7

Information The variants shown are described using the NM_000889.1 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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.1177G>C r.(?) p.(Val393Leu) Unknown - likely benign g.53588113C>G - ITGB7(NM_000889.3):c.1177G>C (p.(Val393Leu)) - ITGB7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1885G>A r.(?) p.(Gly629Ser) Unknown - benign g.53586536C>T - ITGB7(NM_000889.3):c.1885G>A (p.(Gly629Ser)) - ITGB7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2014C>T r.(?) p.(His672Tyr) Unknown - VUS g.53586255G>A g.53192471G>A 2014G>A - ITGB7_000002 - PubMed: Duvvari 2016 - rs11539433 Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease Pat4AB PubMed: Duvvari 2016 patient - - Netherlands white - - - - 1 LOVD
Legend   How to query  


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