Full data view for gene ATP5E

Information The variants shown are described using the NM_006886.3 transcript reference sequence.

29 entries on 1 page. Showing entries 1 - 29.
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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.-4319T>A r.(?) p.(=) Unknown - likely benign g.57611625A>T - PRELID3B(NM_016045.3):c.366T>A (p.(Thr122=)) - ATP5E_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.19C>G r.(?) p.(Gln7Glu) Unknown - VUS g.57607288G>C g.59032233G>C ATP5F1E(NM_006886.3):c.19C>G (p.Q7E) - ATP5E_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.35A>G r.(?) p.(Tyr12Cys) Unknown - pathogenic g.57605482T>C - - - ATP5E_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4070C>T r.(=) p.(=) Unknown - likely benign g.57599830G>A - TUBB1(NM_030773.3):c.1348G>A (p.(Gly450Arg)) - ATP5E_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4113A>G r.(=) p.(=) Unknown - likely benign g.57599787T>C - TUBB1(NM_030773.3):c.1305T>C (p.D435=), TUBB1(NM_030773.4):c.1305T>C (p.D435=) - ATP5E_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4113A>G r.(=) p.(=) Unknown - benign g.57599787T>C - TUBB1(NM_030773.3):c.1305T>C (p.D435=), TUBB1(NM_030773.4):c.1305T>C (p.D435=) - ATP5E_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4343G>A r.(=) p.(=) Unknown - likely benign g.57599557C>T - TUBB1(NM_030773.3):c.1075C>T (p.(Arg359Trp), p.R359W), TUBB1(NM_030773.4):c.1075C>T (p.R359W) - ATP5E_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4343G>A r.(=) p.(=) Unknown - likely benign g.57599557C>T - TUBB1(NM_030773.3):c.1075C>T (p.(Arg359Trp), p.R359W), TUBB1(NM_030773.4):c.1075C>T (p.R359W) - ATP5E_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4343G>A r.(=) p.(=) Unknown - VUS g.57599557C>T - TUBB1(NM_030773.3):c.1075C>T (p.(Arg359Trp), p.R359W), TUBB1(NM_030773.4):c.1075C>T (p.R359W) - ATP5E_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4343G>A r.(=) p.(=) Unknown - likely benign g.57599557C>T - TUBB1(NM_030773.3):c.1075C>T (p.(Arg359Trp), p.R359W), TUBB1(NM_030773.4):c.1075C>T (p.R359W) - ATP5E_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4373C>T r.(=) p.(=) Unknown - likely benign g.57599527G>A - TUBB1(NM_030773.3):c.1045G>A (p.V349I), TUBB1(NM_030773.4):c.1045G>A (p.V349I) - ATP5E_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4373C>T r.(=) p.(=) Unknown - benign g.57599527G>A - TUBB1(NM_030773.3):c.1045G>A (p.V349I), TUBB1(NM_030773.4):c.1045G>A (p.V349I) - ATP5E_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4385T>A r.(=) p.(=) Unknown - VUS g.57599515A>T - - - ATP5E_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4498C>T r.(=) p.(=) Unknown - benign g.57599402G>A g.59024347G>A TUBB1(NM_030773.4):c.920G>A (p.R307H) - TUBB1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4498C>T r.(=) p.(=) Unknown - benign g.57599402G>A - TUBB1(NM_030773.4):c.920G>A (p.R307H) - TUBB1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4499G>A r.(=) p.(=) Unknown - benign g.57599401C>T - TUBB1(NM_030773.3):c.919C>T (p.R307C), TUBB1(NM_030773.4):c.919C>T (p.R307C) - ATP5E_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4499G>A r.(=) p.(=) Unknown - benign g.57599401C>T - TUBB1(NM_030773.3):c.919C>T (p.R307C), TUBB1(NM_030773.4):c.919C>T (p.R307C) - ATP5E_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*4546dup r.(?) p.(=) Unknown - pathogenic g.57599354dup - - - ATP5E_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4591T>C r.(=) p.(=) Unknown - likely benign g.57599309A>G - TUBB1(NM_030773.3):c.827A>G (p.Q276R) - ATP5E_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4597G>A r.(=) p.(=) Unknown - benign g.57599303C>T - TUBB1(NM_030773.4):c.821C>T (p.T274M) - ATP5E_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4664T>C r.(=) p.(=) Unknown - VUS g.57599236A>G - - - ATP5E_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4864G>A r.(=) p.(=) Unknown - VUS g.57599036C>T g.59023981C>T TUBB1(NM_030773.3):c.554C>T (p.A185V) - ATP5E_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4884A>C r.(=) p.(=) Unknown - benign g.57599016T>G g.59023961T>G TUBB1(NM_030773.4):c.534T>G (p.T178=) - TUBB1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4884A>C r.(=) p.(=) Unknown - benign g.57599016T>G - TUBB1(NM_030773.4):c.534T>G (p.T178=) - TUBB1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4884A>T r.(=) p.(=) Unknown - likely benign g.57599016T>A - TUBB1(NM_030773.3):c.534T>A (p.T178=) - ATP5E_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4927A>G r.(=) p.(=) Unknown - VUS g.57598973T>C - - - ATP5E_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*5052G>A r.(=) p.(=) Unknown - benign g.57598848C>T - TUBB1(NM_030773.4):c.366C>T (p.H122=) - ATP5E_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5092C>T r.(=) p.(=) Unknown - likely benign g.57598808G>A g.59023753G>A TUBB1(NM_030773.3):c.326G>A (p.G109E), TUBB1(NM_030773.4):c.326G>A (p.(Gly109Glu)) - ATP5E_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5092C>T r.(=) p.(=) Unknown - likely benign g.57598808G>A - TUBB1(NM_030773.3):c.326G>A (p.G109E), TUBB1(NM_030773.4):c.326G>A (p.(Gly109Glu)) - ATP5E_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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