Full data view for gene DYNLT3

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

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. _1_5_ c.(?_-1)_(*1_?)del - r.0 p.0 Maternal (confirmed) g.37642454_(37731114_37731173)del;(37758263_37758322)_37856175dup - - - CYBB_000006 - PubMed: Arai 2012 - - Germline - - - 0 - DNA arrayCGH, SEQ - - CGD 22383943-Pat2 PubMed: Arai 2012 carrier mother M - Japan - - 0 - - 1 Johan den Dunnen
+/. _1_5_ c.(?_-1)_(*1_?)del - r.0 p.0 Maternal (confirmed) g.(37372045_37372104)_(37965797_37965856)del - - - CYBB_000007 593.8 kb deletion PubMed: Arai 2012 - - Germline - - - 0 - DNA arrayCGH - - CGD 22383943-Pat3 PubMed: Arai 2012 carrier mother M - Japan - - 0 - - 1 Johan den Dunnen
+/. _1_5_ c.(?_-1)_(*1_?)del - r.0 p.0 Unknown g.(35839374_35839433)_(37787250_37787309)del - - - CYBB_000007 1944.5 kb deletion PubMed: Arai 2012 - - De novo - - - 0 - DNA arrayCGH - - CGD 22383943-Pat4 PubMed: Arai 2012 mother not a carrier M - Japan - - 0 - - 1 Johan den Dunnen
+/. _1_5_ c.(?_-1)_(*1_?)del - r.0 p.0 Maternal (confirmed) g.(32407730_32407789)_(38122529_38122588)del - - 46,X,del(X)(p21.1p21.2 CYBB_000007 5711.4 kb deletion PubMed: Arai 2012 - - Germline - - - 0 - DNA arrayCGH - - CGD 22383943-Pat5 PubMed: Arai 2012 carrier mother F - Japan - - 0 - - 1 Johan den Dunnen
-?/. - c.14A>G likely benign r.(?) p.(His5Arg) Unknown g.37706750T>C - DYNLT3(NM_006520.2):c.14A>G (p.(His5Arg)) - DYNLT3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.183C>T - r.(=) p.(=) Parent #1 g.37701048G>A - A61A - DYNLT3_000002 recurrent, found 22 times PubMed: Tarpey 2009 - - Germline - 22/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 22 Lucy Raymond
-/. - c.222C>T benign r.(?) p.(=) Unknown g.37700333G>A - DYNLT3(NM_006520.2):c.222C>T (p.=) - DYNLT3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.275-110G>T - - p.(=) Maternal (inferred) g.37700014C>A g.37840761C>A - - DYNLT3_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.275-110G>T - - p.(=) Maternal (inferred) g.37700014C>A g.37840761C>A - - DYNLT3_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
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