Unique variants in the DYNLT3 gene

Information The variants shown are described using the NM_006520.2 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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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     
+/. 4 _1_5_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic, pathogenic (recessive) g.(32407730_32407789)_(38122529_38122588)del, g.(35839374_35839433)_(37787250_37787309)del, 2 more items - - 46,X,del(X)(p21.1p21.2 CYBB_000006, CYBB_000007, DMD_042217 1944.5 kb deletion, 5711.4 kb deletion, 593.8 kb deletion PubMed: Arai 2012 - - De novo, Germline - - - - - Johan den Dunnen
-?/. 1 - c.14A>G r.(?) p.(His5Arg) - likely benign g.37706750T>C g.37847497T>C DYNLT3(NM_006520.2):c.14A>G (p.(His5Arg)) - DYNLT3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.75T>C r.(?) p.(Cys25=) - likely benign g.37701156A>G - DYNLT3(NM_006520.2):c.75T>C (p.C25=) - DYNLT3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.134C>T r.(?) p.(Ala45Val) - VUS g.37701097G>A - DYNLT3(NM_006520.2):c.134C>T (p.A45V) - DYNLT3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.183C>T r.(=) p.(=) - likely benign g.37701048G>A g.37841795G>A A61A - DYNLT3_000002 recurrent, found 22 times PubMed: Tarpey 2009 - - Germline - 22/208 cases - - - Lucy Raymond
?/. 2 - c.275-110G>T r.(=) p.(=) - VUS g.37700014C>A g.37840761C>A - - DYNLT3_000001 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.286G>A r.(?) p.(Val96Ile) - likely benign g.37699893C>T - DYNLT3(NM_006520.2):c.286G>A (p.(Val96Ile)) - DYNLT3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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