Full data view for gene ABCA1

Information The variants shown are described using the NM_005502.3 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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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     
?/? 35 c.4760A>G r.(?) p.(Lys1587Arg) Parent #1 - VUS g.107562804T>C g.104800523T>C - - ABCA1_000002 - PubMed: Fitzky et al. 1998 - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - F - Germany white - - - - 1 Division of Human Genetics, Innsbruck
?/? 35 c.4760A>G r.(?) p.(Lys1587Arg) Parent #1 - VUS g.107562804T>C g.104800523T>C - - ABCA1_000002 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - F - Germany white - - - - 1 Division of Human Genetics, Innsbruck
?/? 35 c.4760A>G r.(?) p.(Lys1587Arg) Parent #1 - VUS g.107562804T>C g.104800523T>C - - ABCA1_000002 - PubMed: Fitzky et al. 1998 - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - F - Germany;Poland white - - - - 1 Division of Human Genetics, Innsbruck
?/? 35 c.4760A>G r.(?) p.(Lys1587Arg) Parent #1 - VUS g.107562804T>C g.104800523T>C - - ABCA1_000002 - PubMed: Fitzky et al. 1998 - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - F - Germany white - - - - 1 Division of Human Genetics, Innsbruck
?/? 35 c.4760A>G r.(?) p.(Lys1587Arg) Parent #1 - VUS g.107562804T>C g.104800523T>C - - ABCA1_000002 - PubMed: Yu et al. 2000 - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - F - United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
?/? 35 c.4760A>G r.(?) p.(Lys1587Arg) Parent #1 - VUS g.107562804T>C g.104800523T>C - - ABCA1_000002 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - F - Spain white - - - - 1 Division of Human Genetics, Innsbruck
?/? 35 c.4760A>G r.(?) p.(Lys1587Arg) Parent #1 - VUS g.107562804T>C g.104800523T>C - - ABCA1_000002 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - F - United Kingdom (Great Britain);Cyprus white - - - - 1 Division of Human Genetics, Innsbruck
?/? 35 c.4760A>G r.(?) p.(Lys1587Arg) Parent #1 - VUS g.107562804T>C g.104800523T>C - - ABCA1_000002 - PubMed: Jira et al. 2001 - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - F - Spain white - - - - 1 Division of Human Genetics, Innsbruck
?/? 35 c.4760A>G r.(?) p.(Lys1587Arg) Parent #1 - VUS g.107562804T>C g.104800523T>C - - ABCA1_000002 - PubMed: Fitzky et al. 1998 - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - F - Spain white - - - - 1 Division of Human Genetics, Innsbruck
?/? 35 c.4760A>G r.(?) p.(Lys1587Arg) Parent #1 - VUS g.107562804T>C g.104800523T>C - - ABCA1_000002 - PubMed: Yu et al. 2000 - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - F - Spain white - - - - 1 Division of Human Genetics, Innsbruck
?/? 35 c.4760A>G r.(?) p.(Lys1587Arg) Parent #1 - VUS g.107562804T>C g.104800523T>C - - ABCA1_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - F - Germany white - - - - 1 Division of Human Genetics, Innsbruck
?/? 35 c.4760A>G r.(?) p.(Lys1587Arg) Parent #1 - VUS g.107562804T>C g.104800523T>C - - ABCA1_000002 - PubMed: Fitzky et al. 1998 - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - F - Germany white - - - - 1 Division of Human Genetics, Innsbruck
?/? 35 c.4760A>G r.(?) p.(Lys1587Arg) Parent #1 - VUS g.107562804T>C g.104800523T>C - - ABCA1_000002 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - F - Germany white - - - - 1 Division of Human Genetics, Innsbruck
?/? 35 c.4760A>G r.(?) p.(Lys1587Arg) Parent #1 - VUS g.107562804T>C g.104800523T>C - - ABCA1_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - F - Italy white - - - - 1 Division of Human Genetics, Innsbruck
?/? 35 c.4760A>G r.(?) p.(Lys1587Arg) Parent #1 - VUS g.107562804T>C g.104800523T>C - - ABCA1_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - F - Italy white - - - - 1 Division of Human Genetics, Innsbruck
?/? 35 c.4760A>G r.(?) p.(Lys1587Arg) Parent #1 - VUS g.107562804T>C g.104800523T>C - - ABCA1_000002 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - F - United States white - - - - 1 Division of Human Genetics, Innsbruck
?/? 35 c.4760A>G r.(?) p.(Lys1587Arg) Parent #1 - VUS g.107562804T>C g.104800523T>C - - ABCA1_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - F - Poland white - - - - 1 Division of Human Genetics, Innsbruck
?/? 35 c.4760A>G r.(?) p.(Lys1587Arg) Parent #1 - VUS g.107562804T>C g.104800523T>C - - ABCA1_000002 - PubMed: Fitzky et al. 1998 - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - F - Poland white - - - - 1 Division of Human Genetics, Innsbruck
?/? 35 c.4760A>G r.(?) p.(Lys1587Arg) Parent #1 - VUS g.107562804T>C g.104800523T>C - - ABCA1_000002 - PubMed: Fitzky et al. 1998 - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - F - Poland white - - - - 1 Division of Human Genetics, Innsbruck
?/? 35 c.4760A>G r.(?) p.(Lys1587Arg) Parent #1 - VUS g.107562804T>C g.104800523T>C - - ABCA1_000002 - PubMed: Witsch-Baumgartner et al. 2001 - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - F - Poland white - - - - 1 Division of Human Genetics, Innsbruck
?/? 35 c.4760A>G r.(?) p.(Lys1587Arg) Parent #1 - VUS g.107562804T>C g.104800523T>C - - ABCA1_000002 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - F - Switzerland white - - - - 1 Division of Human Genetics, Innsbruck
?/? 35 c.4760A>G r.(?) p.(Lys1587Arg) Parent #1 - VUS g.107562804T>C g.104800523T>C - - ABCA1_000002 - PubMed: Fitzky et al. 1998 - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - M - Italy white - - - - 1 Division of Human Genetics, Innsbruck
?/? 35 c.4760A>G r.(?) p.(Lys1587Arg) Parent #1 - VUS g.107562804T>C g.104800523T>C - - ABCA1_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - F - Italy white - - - - 1 Division of Human Genetics, Innsbruck
?/? 35 c.4760A>G r.(?) p.(Lys1587Arg) Parent #1 - VUS g.107562804T>C g.104800523T>C - - ABCA1_000002 - PubMed: Witsch-Baumgartner et al. 2001 - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - F - Poland white - - - - 1 Division of Human Genetics, Innsbruck
?/? 35 c.4760A>G r.(?) p.(Lys1587Arg) Parent #1 - VUS g.107562804T>C g.104800523T>C - - ABCA1_000002 - PubMed: Fitzky et al. 1998 - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - F - Poland white - - - - 1 Division of Human Genetics, Innsbruck
?/? 35 c.4760A>G r.(?) p.(Lys1587Arg) Parent #1 - VUS g.107562804T>C g.104800523T>C - - ABCA1_000002 - PubMed: Fitzky et al. 1998 - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - F - Poland white - - - - 1 Division of Human Genetics, Innsbruck
?/? 35 c.4760A>G r.(?) p.(Lys1587Arg) Parent #1 - VUS g.107562804T>C g.104800523T>C - - ABCA1_000002 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - F - Poland white - - - - 1 Division of Human Genetics, Innsbruck
?/? 35 c.4760A>G r.(?) p.(Lys1587Arg) Parent #2 - VUS g.107562804T>C g.104800523T>C - - ABCA1_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - F - Italy white - - - - 1 Division of Human Genetics, Innsbruck
?/? 35 c.4760A>G r.(?) p.(Lys1587Arg) Parent #2 - VUS g.107562804T>C g.104800523T>C - - ABCA1_000002 - PubMed: Witsch-Baumgartner et al. 2001 - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - F - Poland white - - - - 1 Division of Human Genetics, Innsbruck
?/? 35 c.4760A>G r.(?) p.(Lys1587Arg) Parent #2 - VUS g.107562804T>C g.104800523T>C - - ABCA1_000002 - PubMed: Fitzky et al. 1998 - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - F - Poland white - - - - 1 Division of Human Genetics, Innsbruck
?/? 35 c.4760A>G r.(?) p.(Lys1587Arg) Parent #2 - VUS g.107562804T>C g.104800523T>C - - ABCA1_000002 - PubMed: Fitzky et al. 1998 - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - F - Poland white - - - - 1 Division of Human Genetics, Innsbruck
?/? 35 c.4760A>G r.(?) p.(Lys1587Arg) Parent #2 - VUS g.107562804T>C g.104800523T>C - - ABCA1_000002 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - F - Poland white - - - - 1 Division of Human Genetics, Innsbruck
-/. - c.4760A>G r.(?) p.(Lys1587Arg) Unknown - benign g.107562804T>C g.104800523T>C ABCA1(NM_005502.4):c.4760A>G (p.K1587R) - ABCA1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4760A>G r.(?) p.(Lys1587Arg) Unknown - benign g.107562804T>C g.104800523T>C ABCA1(NM_005502.4):c.4760A>G (p.K1587R) - ABCA1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4760A>G r.(?) p.(Lys1587Arg) Unknown - benign g.107562804T>C - ABCA1(NM_005502.4):c.4760A>G (p.K1587R) - ABCA1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4760A>G r.(?) p.(Lys1587Arg) Unknown - benign g.107562804T>C - ABCA1(NM_005502.4):c.4760A>G (p.K1587R) - ABCA1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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