Unique variants in the ITGB7 gene

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

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Reported     

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.1177G>C r.(?) p.(Val393Leu) - likely benign g.53588113C>G - ITGB7(NM_000889.3):c.1177G>C (p.(Val393Leu)) - ITGB7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.1885G>A r.(?) p.(Gly629Ser) - benign g.53586536C>T - ITGB7(NM_000889.3):c.1885G>A (p.(Gly629Ser)) - ITGB7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2014C>T r.(?) p.(His672Tyr) - VUS g.53586255G>A g.53192471G>A 2014G>A - ITGB7_000002 - PubMed: Duvvari 2016 - rs11539433 Germline - - - - - LOVD
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