Unique variants in the ITGA6 gene

Information The variants shown are described using the NM_000210.2 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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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.776-1242dup r.(=) p.(=) - VUS g.173337541dup g.172472813dup ITGA6(NM_001316306.1):c.341dupA (p.D114Efs*6) - ITGA6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.776-1210del r.(=) p.(=) - pathogenic g.173337573del g.172472845del ITGA6(NM_001316306.1):c.373delG (p.E125Sfs*9) - ITGA6_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1138G>A r.(?) p.(Ala380Thr) - benign g.173339808G>A g.172475080G>A ITGA6(NM_000210.4):c.1138G>A (p.A380T) - ITGA6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1154G>C r.(?) p.(Gly385Ala) - VUS g.173339824G>C g.172475096G>C ITGA6(NM_000210.2):c.1154G>C (p.(Gly385Ala)) - ITGA6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1374A>G r.(?) p.(Ser458=) - VUS g.173341227A>G g.172476499A>G ITGA6(NM_000210.4):c.1374A>G (p.S458=) - ITGA6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1388+8A>T r.(=) p.(=) - likely benign g.173341249A>T g.172476521A>T ITGA6(NM_000210.2):c.1388+8A>T (p.(=)) - ITGA6_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.1487+7A>G r.(=) p.(=) - benign g.173344474A>G g.172479746A>G ITGA6(NM_000210.4):c.1487+7A>G - ITGA6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1595G>T r.(?) p.(Gly532Val) - likely benign g.173349555G>T g.172484827G>T ITGA6(NM_000210.2):c.1595G>T (p.(Gly532Val)) - ITGA6_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1970+12_1970+14del r.(=) p.(=) - likely benign g.173351878_173351880del g.172487150_172487152del ITGA6(NM_000210.4):c.1970+12_1970+14delTGT - ITGA6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.2082C>T r.(?) p.(Asp694=) - benign g.173352103C>T g.172487375C>T ITGA6(NM_000210.4):c.2082C>T (p.D694=) - ITGA6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.2161-17G>A r.(=) p.(=) - likely benign g.173352258G>A g.172487530G>A ITGA6(NM_000210.4):c.2161-17G>A - ITGA6_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.2245-3T>C r.spl? p.? - likely benign g.173352453T>C - ITGA6(NM_000210.3):c.2245-3T>C - ITGA6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2247C>G r.(?) p.(Val749=) - benign g.173352458C>G g.172487730C>G ITGA6(NM_000210.4):c.2247C>G (p.V749=) - ITGA6_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.2296G>T r.(?) p.(Asp766Tyr) - likely benign g.173352507G>T g.172487779G>T ITGA6(NM_000210.2):c.2296G>T (p.(Asp766Tyr)) - ITGA6_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2704C>T r.(?) p.(Arg902Trp) - likely benign g.173355776C>T g.172491048C>T - - ITGA6_000017 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs199587983 Germline - 1/2787 individuals - - - Mohammed Faruq
-?/., ?/. 3 - c.2728G>A r.(?) p.(Asp910Asn) - likely benign, VUS g.173355800G>A g.172491072G>A 2728G>A, ITGA6(NM_000210.2):c.2728G>A (p.(Asp910Asn)), ITGA6(NM_000210.4):c.2728G>A (p.D910N) - ITGA6_000007 VKGL data sharing initiative Nederland PubMed: Duvvari 2016 - rs61737182 CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen
-?/. 1 - c.2978C>T r.(?) p.(Ala993Val) - likely benign g.173356241C>T g.172491513C>T ITGA6(NM_000210.2):c.2978C>T (p.(Ala993Val)) - ITGA6_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2984C>A r.(?) p.(Thr995Asn) - likely benign g.173356247C>A g.172491519C>A ITGA6(NM_000210.2):c.2984C>A (p.(Thr995Asn)) - ITGA6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.3006T>C r.(?) p.(Phe1002=) - likely benign g.173362720T>C - ITGA6(NM_000210.3):c.3006T>C (p.F1002=) - ITGA6_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*65C>T r.(=) p.(=) - VUS g.173368861C>T g.172504133C>T ITGA6(NM_000210.2):c.*65C>T (p.(=)) - ITGA6_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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