All variants in the ABCA7 gene

Information The variants shown are described using the NM_019112.3 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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Effect     

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     
-?/. - c.-2685del r.(?) p.(=) - likely benign g.1037648del g.1037649del CNN2(NM_004368.2):c.677delC (p.(Arg227GlyfsTer113)) - ABCA7_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-2618T>C r.(?) p.(=) - likely benign g.1037715T>C g.1037716T>C CNN2(NM_004368.2):c.746T>C (p.(Met249Thr)) - CNN2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.-2617G>A r.(?) p.(=) - likely benign g.1037716G>A g.1037717G>A CNN2(NM_004368.2):c.747G>A (p.(Met249Ile)) - CNN2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.-2532A>C r.(?) p.(=) - likely benign g.1037801A>C g.1037802A>C CNN2(NM_004368.2):c.832A>C (p.(Thr278Pro)) - CNN2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-2527_-2526insAC r.(?) p.(=) - VUS g.1037806_1037807insAC g.1037807_1037808insAC CNN2(NM_004368.2):c.837_838insAC (p.(Ala280ThrfsTer61)) - ABCA7_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-2526G>A r.(?) p.(=) - likely benign g.1037807G>A g.1037808G>A CNN2(NM_004368.2):c.838G>A (p.(Ala280Thr)) - CNN2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-2524_-2523del r.(?) p.(=) - VUS g.1037809_1037810del g.1037810_1037811del CNN2(NM_004368.2):c.840_841del (p.(Asp281TrpfsTer17)) - ABCA7_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-2523G>C r.(?) p.(=) - likely benign g.1037810G>C g.1037811G>C CNN2(NM_004368.2):c.841G>C (p.(Asp281His)) - CNN2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.-2505A>G r.(?) p.(=) - likely benign g.1037828A>G g.1037829A>G CNN2(NM_004368.2):c.859A>G (p.(Thr287Ala)) - CNN2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.-2489A>G r.(?) p.(=) - likely benign g.1037844A>G g.1037845A>G CNN2(NM_004368.2):c.875A>G (p.(Asp292Gly)) - CNN2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.-2477T>C r.(?) p.(=) - likely benign g.1037856T>C g.1037857T>C CNN2(NM_004368.2):c.887T>C (p.(Val296Ala)) - CNN2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.778G>T r.(?) p.(Asp260Tyr) - VUS g.1043238G>T g.1043239G>T ABCA7(NM_019112.3):c.778G>T (p.D260Y) - ABCA7_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.835C>T r.(?) p.(Leu279=) - likely benign g.1043377C>T g.1043378C>T ABCA7(NM_019112.3):c.835C>T (p.L279=) - ABCA7_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.922A>C r.(?) p.(Met308Leu) - likely benign g.1043464A>C - ABCA7(NM_019112.3):c.922A>C (p.M308L) - ABCA7_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.930+3G>A r.spl? p.? - likely benign g.1043475G>A - ABCA7(NM_019112.3):c.930+3G>A - ABCA7_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.974G>A r.(?) p.(Arg325Gln) - likely benign g.1043767G>A g.1043768G>A ABCA7(NM_019112.3):c.974G>A (p.R325Q) - ABCA7_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1456C>G r.(?) p.(Pro486Ala) - VUS g.1046239C>G g.1046240C>G ABCA7(NM_019112.3):c.1456C>G (p.(Pro486Ala)) - ABCA7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1766C>G r.(?) p.(Ala589Gly) - likely benign g.1046944C>G g.1046945C>G ABCA7(NM_019112.3):c.1766C>G (p.A589G) - ABCA7_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1952C>G r.(?) p.(Ser651Cys) - VUS g.1047262C>G g.1047263C>G ABCA7(NM_019112.3):c.1952C>G (p.(Ser651Cys)) - ABCA7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.2359C>G r.(?) p.(Pro787Ala) - likely benign g.1048983C>G g.1048984C>G ABCA7(NM_019112.3):c.2359C>G (p.P787A) - ABCA7_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2401C>A r.(?) p.(Pro801Thr) - likely benign g.1049285C>A g.1049286C>A ABCA7(NM_019112.3):c.2401C>A (p.P801T) - ABCA7_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2684+5G>A r.spl? p.? - VUS g.1051056G>A g.1051057G>A ABCA7(NM_019112.3):c.2684+5G>A - ABCA7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.3352C>T r.(?) p.(Arg1118Ter) - VUS g.1053459C>T g.1053460C>T ABCA7(NM_019112.3):c.3352C>T (p.(Arg1118Ter)) - ABCA7_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3653G>A r.(?) p.(Arg1218His) - likely benign g.1054267G>A g.1054268G>A ABCA7(NM_019112.3):c.3653G>A (p.R1218H) - ABCA7_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3727-6C>T r.(=) p.(=) - likely benign g.1054563C>T g.1054564C>T ABCA7(NM_019112.3):c.3727-6C>T (p.(=)) - ABCA7_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.4343G>A r.(?) p.(Gly1448Asp) - likely benign g.1056169G>A g.1056170G>A ABCA7(NM_019112.3):c.4343G>A (p.G1448D) - ABCA7_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.4795G>A r.(?) p.(Val1599Met) - VUS g.1057343G>A g.1057344G>A ABCA7(NM_019112.3):c.4795G>A (p.V1599M) - ABCA7_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.4795G>A r.(?) p.(Val1599Met) - VUS g.1057343G>A g.1057344G>A - - ABCA7_000034 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117187003 Germline - 3/2795 individuals - 0 - Mohammed Faruq
?/. - c.5345G>A r.(?) p.(Arg1782Gln) - VUS g.1058884G>A g.1058885G>A ABCA7(NM_019112.3):c.5345G>A (p.R1782Q) - ABCA7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.5464-66G>A r.(=) p.(=) - likely benign g.1061715G>A - ABCA7:c.5464-66G>A - ABCA7_000038 - PubMed: Maranhao 2015 - - Germline - 5/25 families - 0 - LOVD
-?/. - c.5570+5G>C r.spl? p.? - likely benign g.1061892G>C g.1061893G>C ABCA7(NM_019112.3):c.5570+5G>C - ABCA7_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.5579G>A r.(?) p.(Arg1860Gln) - likely benign g.1062179G>A g.1062180G>A ABCA7(NM_019112.3):c.5579G>A (p.R1860Q) - ABCA7_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.6322G>A r.(?) p.(Glu2108Lys) - likely benign g.1065305G>A g.1065306G>A ABCA7(NM_019112.3):c.6322G>A (p.E2108K) - ABCA7_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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