Full data view for gene DOCK3

Information The variants shown are described using the NM_004947.4 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.37+44503C>T r.(=) p.(=) Both (homozygous) - VUS g.50757234C>T g.50719803C>T - - DOCK3_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.37+44665A>G r.(=) p.(=) Both (homozygous) - VUS g.50757396A>G g.50719965A>G - - DOCK3_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+/. 1i_13i c.(37+1_38-27066)_(1126+972_1127-1)del r.? p.? Paternal (confirmed) - pathogenic (recessive) g.(50800000_50789040)_(51247265_51250000)del - del 5 089 040‐5 147265, corrected - DOCK3_000008 458 kb deletion PubMed: Helbig 2017 - - Germline yes - - - - DNA arrayCGH - - MRT 28195318-FamPat11/12 PubMed: Helbig 2017 2-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F;M no United States Jewish-Ashkenazi;Yemen - - - - 1 Johan den Dunnen
+/. 5i_12i c.(315+1_316-39477)_(1038-13437_1038-1)del r.(?) p.(Lys106Valfs*6) Both (homozygous) - pathogenic (recessive) g.(51065000_51062402)_(51232768_51235000)del - del 51062402-51232768 - DOCK3_000010 170 kb homozygos deletion ex6-12 PubMed: Iwata-Otsubo 2018 - - Germline - - - - - DNA arraySNP - - MRT 29130632-FamPat PubMed: Iwata-Otsubo 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes United States - - - - - 1 Johan den Dunnen
+/. 6 c.382C>T r.(?) p.(Gln128*) Maternal (confirmed) - pathogenic (recessive) g.51101945C>T g.51064514C>T 382C>G (Gln128*) - DOCK3_000009 - PubMed: Helbig 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - trio WES MRT 28195318-FamPat11/12 PubMed: Helbig 2017 2-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F;M no United States Jewish-Ashkenazi;Yemen - - - - 1 Johan den Dunnen
+?/. - c.639_642dup r.(?) p.(His215AlafsTer28) Unknown - likely pathogenic g.51127708_51127711dup g.51090277_51090280dup - - DOCK3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1038-879G>A r.(=) p.(=) Both (homozygous) - VUS g.51245326G>A g.51207895G>A - - DOCK3_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1038-856G>T r.(=) p.(=) Both (homozygous) - VUS g.51245349G>T g.51207918G>T - - DOCK3_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.1175G>A r.(?) p.(Arg392Gln) Unknown - likely benign g.51251601G>A g.51214170G>A DOCK3(NM_004947.4):c.1175G>A (p.R392Q), DOCK3(NM_004947.5):c.1175G>A (p.R392Q) - DOCK3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1175G>A r.(?) p.(Arg392Gln) Maternal (confirmed) - VUS g.51251601G>A g.51214170G>A - - DOCK3_000005 - - - - Germline - - - - - DNA SEQ-NG-I blood - MRT 961780 - - M no Netherlands european 08y05m - - - 1 Ingrid van de Laar
-?/. - c.1175G>A r.(?) p.(Arg392Gln) Unknown - likely benign g.51251601G>A - DOCK3(NM_004947.4):c.1175G>A (p.R392Q), DOCK3(NM_004947.5):c.1175G>A (p.R392Q) - DOCK3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2155C>T r.(?) p.(Arg719Ter) Unknown - VUS g.51284209C>T g.51246778C>T - - DOCK3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2531G>A r.(?) p.(Arg844His) Unknown - VUS g.51308421G>A - DOCK3(NM_004947.5):c.2531G>A (p.R844H) - DOCK3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3132A>G r.(?) p.(Ile1044Met) Unknown - VUS g.51349945A>G - DOCK3(NM_004947.4):c.3132A>G (p.I1044M) - DOCK3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3887A>G r.(?) p.(Lys1296Arg) Unknown - VUS g.51378788A>G g.51341357A>G DOCK3(NM_004947.4):c.3887A>G (p.K1296R) - DOCK3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3887A>G r.(?) p.(Lys1296Arg) Paternal (confirmed) - VUS g.51378788A>G g.51341357A>G - - DOCK3_000006 - - - - Germline - - - - - DNA SEQ-NG-I blood - MRT 961780 - - M no Netherlands european 08y05m - - - 1 Ingrid van de Laar
?/. - c.3947A>T r.(?) p.(Glu1316Val) Unknown - VUS g.51386314A>T - DOCK3(NM_004947.5):c.3947A>T (p.E1316V) - DOCK3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5020A>T r.(?) p.(Met1674Leu) Unknown - VUS g.51399303A>T - DOCK3(NM_004947.5):c.5020A>T (p.M1674L) - DOCK3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5407G>A r.(?) p.(Gly1803Arg) Unknown - VUS g.51412013G>A - DOCK3(NM_004947.5):c.5407G>A (p.G1803R) - DOCK3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5418G>A r.(?) p.(Pro1806=) Unknown - likely benign g.51413184G>A g.51375753G>A DOCK3(NM_004947.4):c.5418G>A (p.P1806=) - DOCK3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5557G>C r.(?) p.(Ala1853Pro) Unknown - VUS g.51417612G>C g.51380181G>C DOCK3(NM_004947.4):c.5557G>C (p.A1853P) - DOCK3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5585C>A r.(?) p.(Ser1862Tyr) Unknown - VUS g.51418482C>A - DOCK3(NM_004947.4):c.5585C>A (p.S1862Y) - DOCK3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5638G>A r.(?) p.(Gly1880Ser) Unknown - VUS g.51418535G>A - DOCK3(NM_004947.5):c.5638G>A (p.(Gly1880Ser)) - DOCK3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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