Full data view for gene ACSL4

Information The variants shown are described using the NM_022977.2 transcript reference sequence.

49 entries on 1 page. Showing entries 1 - 49.
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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     

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Population     

Age at death     

VIP     

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Owner     
?/. 11 c.? r.? p.? Unknown - VUS g.? - c.1181A>G (Asn394Ser) - USP9X_000005 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-2740 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.190C>T r.(?) p.(His64Tyr) Unknown - VUS g.108926526G>A g.109683297G>A - - ACSL4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.213A>G r.(?) p.(Ile71Met) Unknown - likely benign g.108926503T>C g.109683274T>C ACSL4(NM_004458.2):c.90A>G (p.(Ile30Met)) - ACSL4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.484G>T r.(?) p.(Glu162Ter) Unknown - pathogenic g.108925993C>A g.109682764C>A - - ACSL4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.526C>G r.(?) p.(Pro176Ala) Unknown - VUS g.108925951G>C g.109682722G>C ACSL4(NM_022977.2):c.526C>G (p.P176A) - ACSL4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.581A>G r.(?) p.(Asn194Ser) Unknown - benign g.108924553T>C g.109681324T>C ACSL4(NM_022977.2):c.581A>G (p.N194S) - ACSL4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.613G>A r.(?) p.(Val205Ile) Unknown - likely benign g.108924521C>T - ACSL4(NM_022977.2):c.613G>A (p.V205I) - ACSL4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.639+8T>G r.(=) p.(=) Unknown - likely benign g.108924487A>C g.109681258A>C ACSL4(NM_022977.2):c.639+8T>G - ACSL4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.674T>A r.(?) p.(Ile225Asn) Unknown - VUS g.108924331A>T g.109681102A>T ACSL4(NM_022977.3):c.674T>A (p.I225N) - ACSL4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 7i c.779-342G>T r.(=) p.(=) Maternal (inferred) - VUS g.108921986C>A g.109678757C>A - - ACSL4_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.819C>T r.(?) p.(Ala273=) Unknown - likely benign g.108921604G>A - ACSL4(NM_022977.2):c.819C>T (p.A273=) - ACSL4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.929+3A>G r.spl? p.? Unknown - likely benign g.108921491T>C g.109678262T>C ACSL4(NM_004458.2):c.806+3A>G (p.?), ACSL4(NM_022977.2):c.929+3A>G, ACSL4(NM_022977.3):c.929+3A>G - ACSL4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.929+3A>G r.spl? p.? Unknown - benign g.108921491T>C g.109678262T>C ACSL4(NM_004458.2):c.806+3A>G (p.?), ACSL4(NM_022977.2):c.929+3A>G, ACSL4(NM_022977.3):c.929+3A>G - ACSL4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.929+3A>G r.spl? p.? Unknown - likely benign g.108921491T>C g.109678262T>C ACSL4(NM_004458.2):c.806+3A>G (p.?), ACSL4(NM_022977.2):c.929+3A>G, ACSL4(NM_022977.3):c.929+3A>G - ACSL4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.932C>T r.(?) p.(Pro311Leu) Unknown - likely benign g.108921338G>A g.109678109G>A ACSL4(NM_022977.2):c.932C>T (p.P311L) - ACSL4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.939C>G r.(?) p.(Asp313Glu) Unknown - VUS g.108921331G>C g.109678102G>C - - ACSL4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 9i c.1054-71T>C r.(=) p.(=) Maternal (inferred) - VUS g.108917773A>G g.109674544A>G - - ACSL4_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
./. 9i c.1054-71T>C r.(=) p.(=) Maternal (inferred) - VUS g.108917773A>G g.109674544A>G - - ACSL4_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
./. 9i c.1054-55A>G r.(=) p.(=) Maternal (inferred) - VUS g.108917757T>C g.109674528T>C - - ACSL4_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
./. 9i c.1054-55A>G r.(=) p.(=) Maternal (inferred) - VUS g.108917757T>C g.109674528T>C - - ACSL4_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
./. - c.1124C>T r.(?) p.(Pro375Leu) Maternal (confirmed) - pathogenic g.108917632G>A g.109674403G>A ACSL4 P375L - ACSL4_000026 - PubMed: Hu 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamMRX68/D109 PubMed: Hu 2016 family, 5 affected, 3 unaffected heterozygous carrier females M - - - - - - - 5 Johan den Dunnen
-?/. - c.1125+10G>T r.(=) p.(=) Unknown - likely benign g.108917621C>A - ACSL4(NM_022977.2):c.1125+10G>T - ACSL4_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1135G>A r.(?) p.(Asp379Asn) Maternal (confirmed) - VUS g.108912393C>T g.109669164C>T - - ACSL4_000023 variant not linked to phenotype PubMed: Ito 2018, Journal: Ito 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? 29961568-FamPat3 PubMed: Ito 2018, Journal: Ito 2018 2-generation family, 1 affected, unaffected non-carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.1145A>G r.(?) p.(Tyr382Cys) Maternal (confirmed) - VUS g.108912383T>C g.109669154T>C - - ACSL4_000027 - PubMed: Morimoto 2018, Journal: Morimoto 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? 30401460-Fam2 PubMed: Morimoto 2018, Journal: Morimoto 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Turkey - - - - - 1 Johan den Dunnen
-?/. - c.1145A>G r.(?) p.(Tyr382Cys) Unknown - likely benign g.108912383T>C g.109669154T>C ACSL4(NM_022977.2):c.1145A>G (p.Y382C) - ACSL4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1214A>T r.(?) p.(Asp405Val) Unknown - VUS g.108912314T>A g.109669085T>A ACSL4(NM_022977.2):c.1214A>T (p.D405V) - ACSL4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1303A>G r.(?) p.(Asn435Asp) Unknown - likely benign g.108911465T>C g.109668236T>C ACSL4(NM_022977.2):c.1303A>G (p.N435D) - ACSL4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1382C>T r.(?) p.(Pro461Leu) Parent #1 - VUS g.108911386G>A g.109668157G>A - - ACSL4_000024 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-/. - c.1384A>G r.(?) p.(Ile462Val) Unknown - benign g.108911384T>C g.109668155T>C ACSL4(NM_004458.2):c.1261A>G (p.(Ile421Val)) - ACSL4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12i c.1439-195_*1127737del r.? p.? Unknown - pathogenic g.107759521_108908918del - COL4A5 IVS2_ACSL4 IVS12 del - COL4A5_000981 fusion transcript COL4A5_ACSL4 PubMed: Rodriguez 2010, PubMed: Meloni 2002, PubMed: Piccini 1998 - - Germline - - - - - DNA PCR, SEQ, Southern - - AS - PubMed: Rodriguez 2010, PubMed: Meloni 2002, PubMed: Piccini 1998 - M - - European - - - - 1 Judy Savige
-?/. - c.1448A>G r.(?) p.(Tyr483Cys) Unknown - likely benign g.108908714T>C g.109665485T>C ACSL4(NM_004458.2):c.1325A>G (p.(Tyr442Cys)), ACSL4(NM_022977.2):c.1448A>G (p.Y483C) - ACSL4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1448A>G r.(?) p.(Tyr483Cys) Unknown - benign g.108908714T>C g.109665485T>C ACSL4(NM_004458.2):c.1325A>G (p.(Tyr442Cys)), ACSL4(NM_022977.2):c.1448A>G (p.Y483C) - ACSL4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1514-7T>C r.(=) p.(=) Unknown - VUS g.108906638A>G g.109663409A>G ACSL4(NM_004458.2):c.1391-7T>C (p.(=)) - ACSL4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1582A>G r.(?) p.(Met528Val) Unknown - VUS g.108906563T>C g.109663334T>C ACSL4(NM_022977.2):c.1582A>G (p.M528V) - ACSL4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1599T>C r.(?) p.(Asn533=) Unknown - likely benign g.108906546A>G g.109663317A>G ACSL4(NM_022977.2):c.1599T>C (p.N533=) - ACSL4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1613C>T r.(?) p.(Ala538Val) Maternal (confirmed) - VUS g.108906532G>A - - - ACSL4_000037 - - - - Germline - - - - - DNA SEQ-NG - - MRX63 242P1 family, 2 affected - M no Spain - - - - - 2 Alejandro Brea-Fernández
?/. - c.1613C>T r.(?) p.(Ala538Val) Maternal (confirmed) - VUS g.108906532G>A - - - ACSL4_000037 - - - - Germline - - - - - DNA SEQ-NG - WES MRX63 242P2 - - M no Spain - - - - - 1 Alejandro Brea-Fernández
+/. - c.1705+1G>A r.spl? p.? Unknown - pathogenic g.108906439C>T g.109663210C>T - - ACSL4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1708C>T r.(?) p.(Arg570Cys) Unknown - likely pathogenic g.108904872G>A - - - ACSL4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1709G>A r.(?) p.(Arg570His) Unknown - likely pathogenic g.108904871C>T - - - ACSL4_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1731A>G r.(?) p.(Leu577=) Unknown - likely benign g.108904849T>C g.109661620T>C ACSL4(NM_022977.2):c.1731A>G (p.L577=) - ACSL4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1749A>G r.(?) p.(Val583=) Unknown - likely benign g.108904831T>C g.109661602T>C ACSL4(NM_022977.2):c.1749A>G (p.V583=) - ACSL4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 15i c.1820+31G>A r.(=) p.(=) Maternal (inferred) - VUS g.108904729C>T g.109661500C>T - - ACSL4_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
./. 15i c.1820+31G>A r.(=) p.(=) Maternal (inferred) - VUS g.108904729C>T g.109661500C>T - - ACSL4_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.1894G>A r.(?) p.(Val632Ile) Unknown - likely benign g.108902667C>T g.109659438C>T ACSL4(NM_022977.2):c.1894G>A (p.V632I) - ACSL4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1960C>T r.(?) p.(Arg654*) Maternal (confirmed) - pathogenic g.108902601G>A g.109659372G>A ACSL4 R654* - ACSL4_000025 - PubMed: Hu 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamAU33 PubMed: Hu 2016 family, 7 affected, 10 unaffected heterozygous carrier females M - - - - - - - 7 Johan den Dunnen
+?/. - c.1960C>T r.(?) p.(Arg654*) Unknown - likely pathogenic g.108902601G>A g.109659372G>A - - ACSL4_000025 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5411400 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.1979-9T>C r.(=) p.(=) Unknown - likely benign g.108887424A>G g.109644195A>G ACSL4(NM_022977.2):c.1979-9T>C - ACSL4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1990C>T r.(?) p.(Arg664*) Unknown - VUS g.108887404G>A - ACSL4(NM_004458.3):c.1867C>T (p.R623*) - ACSL4_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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