All variants in the ITGA11 gene

Information The variants shown are described using the NM_001004439.1 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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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.-3474677_*966314del r.? p.? - pathogenic g.67629083_72199082del - - - MAP2K5_000011 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
?/. - c.286G>A r.(?) p.(Val96Met) - VUS g.68657116C>T g.68364778C>T ITGA11(NM_001004439.1):c.286G>A (p.(Val96Met)) - ITGA11_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. - c.748C>T r.(?) p.(Arg250Cys) - likely pathogenic g.68649490G>A g.68357152G>A NM_001004439.1(ITGA11):c.748C>T p.(Arg250Cys) - ITGA11_000003 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - Marjolijn JL Ligtenberg
?/. - c.2252A>G r.(?) p.(Glu751Gly) - VUS g.68617539T>C g.68325201T>C - - ITGA11_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.2617-253dup r.(=) p.(=) - VUS g.68609958dup g.68317620dup - - ITGA11_000001 - - - - Germline - - - - - Yu Sun
./. - c.2617-188A>C r.(=) p.(=) - VUS g.68609889T>G g.68317551T>G - - ITGA11_000002 - - - - Germline - - - - - Yu Sun
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