Full data view for gene CPT1A

Information The variants shown are described using the NM_001876.3 transcript reference sequence.

50 entries on 1 page. Showing entries 1 - 50.
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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.145G>A r.(?) p.(Gly49Ser) Unknown - likely benign g.68580041C>T g.68812573C>T - - CPT1A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.222C>A r.(?) p.(Tyr74*) Parent #1 - likely pathogenic g.68579964G>T g.68812496G>T - - CPT1A_000021 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs398123654 Germline - 2/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-?/. - c.387G>A r.(?) p.(Leu129=) Unknown - likely benign g.68575001C>T g.68807533C>T - - CPT1A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.518G>A r.(?) p.(Arg173His) Unknown - likely benign g.68571505C>T - CPT1A(NM_001876.4):c.518G>A (p.(Arg173His)) - CPT1A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.556-16C>T r.(=) p.(=) Unknown - benign g.68566839G>A g.68799371G>A CPT1A(NM_001876.4):c.556-16C>T - CPT1A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.556-16C>T r.(=) p.(=) Unknown - benign g.68566839G>A g.68799371G>A CPT1A(NM_001876.4):c.556-16C>T - CPT1A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.556-12del r.(=) p.(=) Unknown - likely benign g.68566839del g.68799371del CPT1A(NM_001876.4):c.556-12delC - CPT1A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.748G>T r.(?) p.(Val250Leu) Parent #1 - pathogenic (recessive) g.68564347C>A g.68796879C>A - - CPT1A_000031 - PubMed: Kang 2018 - - Germline - - - - - DNA SEQ - plasma ? Pat12 PubMed: Kang 2018 - - - Korea - - - - - 1 Johan den Dunnen
?/. - c.823G>A r.(?) p.(Ala275Thr) Unknown - VUS g.68562328C>T g.68794860C>T - - CPT1A_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ, MLPA - - OCA1 - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.823G>A r.(?) p.(Ala275Thr) Unknown - VUS g.68562328C>T g.68794860C>T - - CPT1A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.823G>A r.(?) p.(Ala275Thr) Unknown - VUS g.68562328C>T g.68794860C>T - - CPT1A_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ - COL6A1, COL6A2, COL6A3 MD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.823G>A r.(?) p.(Ala275Thr) Unknown - VUS g.68562328C>T g.68794860C>T - - CPT1A_000001 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.823G>A r.(?) p.(Ala275Thr) Unknown - VUS g.68562328C>T g.68794860C>T - - CPT1A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.823G>A r.(?) p.(Ala275Thr) Unknown - VUS g.68562328C>T g.68794860C>T - - CPT1A_000001 - - - - Germline - - - - - DNA SEQ - COL6A1, COL6A2, COL6A3 MD U17 PubMed: Fan 2018 - - - China - - - - - 1 Johan den Dunnen
?/. - c.823G>A r.(?) p.(Ala275Thr) Unknown - VUS g.68562328C>T g.68794860C>T - - CPT1A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.823G>A r.(?) p.(Ala275Thr) Unknown - VUS g.68562328C>T g.68794860C>T - - CPT1A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.823G>A r.(?) p.(Ala275Thr) Unknown - VUS g.68562328C>T g.68794860C>T - - CPT1A_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ - COL6A1, COL6A2, COL6A3 MD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.823G>A r.(?) p.(Ala275Thr) Unknown - benign g.68562328C>T g.68794860C>T CPT1A(NM_001876.4):c.823G>A (p.A275T) - CPT1A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.823G>A r.(?) p.(Ala275Thr) Unknown - benign g.68562328C>T g.68794860C>T CPT1A(NM_001876.4):c.823G>A (p.A275T) - CPT1A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.823G>A r.(?) p.(Ala275Thr) Parent #1 - benign g.68562328C>T g.68794860C>T - - CPT1A_000001 105 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2229738 Germline - 105/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 105 Mohammed Faruq
-/. - c.823G>A r.(?) p.(Ala275Thr) Both (homozygous) - benign g.68562328C>T g.68794860C>T - - CPT1A_000001 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2229738 Germline - 3/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-/. - c.823G>A r.(?) p.(Ala275Thr) Unknown - benign g.68562328C>T g.68794860C>T CPT1A 11:68318904 (hg18) het CM033597 8.7% - CPT1A_000001 non-causative, heterozygous PubMed: Bell 2011 - - Germline ? - - - - DNA, RNA SEQ-NG blood - retinal disease NA03575 PubMed: Bell 2011 - ? - - - - - - - 1 LOVD
+/. - c.837_838insT r.(?) p.(Leu280SerfsTer34) Parent #1 - pathogenic (recessive) g.68562313_68562314insA g.68794845_68794846insA - - CPT1A_000030 - PubMed: Kang 2018 - - Germline - - - - - DNA SEQ - plasma ? Pat8 PubMed: Kang 2018 - - - Korea - - - - - 1 Johan den Dunnen
-/. - c.863G>A r.(?) p.(Arg288Gln) Parent #1 - benign g.68562288C>T g.68794820C>T - - CPT1A_000020 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs140958507 Germline - 4/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
-?/. - c.884G>A r.(?) p.(Arg295His) Unknown - likely benign g.68560866C>T g.68793398C>T - - CPT1A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.947G>A r.(?) p.(Arg316Gln) Parent #2 - pathogenic (recessive) g.68560803C>T g.68793335C>T - - CPT1A_000029 - PubMed: Kang 2018 - - Germline - - - - - DNA SEQ - plasma ? Pat8 PubMed: Kang 2018 - - - Korea - - - - - 1 Johan den Dunnen
-/. - c.963G>A r.(?) p.(Glu321=) Unknown - benign g.68560787C>T - - - CPT1A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.967+3G>A r.spl? p.? Unknown - benign g.68560780C>T g.68793312C>T CPT1A(NM_001876.4):c.967+3G>A - CPT1A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1015C>T r.(?) p.(Arg339*) Both (homozygous) - pathogenic g.68552431G>A g.68784963G>A Arg339Ter - CPT1A_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CPTD1A - - - - - - - - - - - 1 Belen Perez
+/. 10 c.1015C>T r.(?) p.(Arg339Ter) Both (homozygous) - pathogenic g.68552431G>A g.68784963G>A - - CPT1A_000009 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat31 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1015C>T r.(?) p.(Arg339Ter) Parent #2 - pathogenic (recessive) g.68552431G>A g.68784963G>A - - CPT1A_000009 - PubMed: Kang 2018 - - Germline - - - - - DNA SEQ - plasma ? Pat12 PubMed: Kang 2018 - - - Korea - - - - - 1 Johan den Dunnen
+/. - c.1109_1112del r.(?) p.(Thr370Argfs*48) Unknown - pathogenic g.68552334_68552337del - CPT1A(NM_001876.4):c.1109_1112delCCTC (p.T370Rfs*48) - CPT1A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1112C>T r.(?) p.(Ser371Leu) Unknown - VUS g.68552334G>A g.68784866G>A - - CPT1A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1164-20G>A r.(=) p.(=) Unknown - likely benign g.68549447C>T g.68781979C>T - - CPT1A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1251= r.(=) p.(Phe417=) Unknown - benign g.68549340A>G g.68781872A>G CPT1A(NM_001876.4):c.1251T>C (p.F417=) - CPT1A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1353-4G>A r.spl? p.? Unknown - likely benign g.68548217C>T - CPT1A(NM_001876.4):c.1353-4G>A - CPT1A_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 12 c.1394G>A r.(?) p.(Gly465Glu) Both (homozygous) - likely pathogenic (recessive) g.68548172C>T g.68780704C>T - - CPT1A_000024 - - 373240 rs761944958 Germline - - - - - DNA SEQ-NG - - CPTD1A - - - M ? - - - - - - 1 Ponghatai Boonsimma
+?/. 12 c.1436G>A r.(?) p.(Arg479Gln) Both (homozygous) - pathogenic g.68548130C>T g.68780662C>T 1436C>T - CPT1A_000002 c.1436C>T; on reverse strand Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Journal: Clemente 2014 - rs80356779 Germline yes - - - - DNA arraySNP - - Healthy/Control - Journal: Clemente (2014) 25 Northeast Siberian (Chukchi, Eskimo, and Koryaks) genomes with a control panel of 25 European and 11 East Asian genomes, publicly available. Complete Genomics genomes ? ? - Northeast Siberian - - - - 61 Marianne Vos (LOVD-team)
-?/. - c.1496C>T r.(?) p.(Ala499Val) Unknown - likely benign g.68542863G>A g.68775395G>A CPT1A(NM_001876.4):c.1496C>T (p.A499V) - CPT1A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1575+8C>T r.(=) p.(=) Unknown - likely benign g.68542776G>A g.68775308G>A CPT1A(NM_001876.4):c.1575+8C>T - CPT1A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1575+8C>T r.(=) p.(=) Unknown - likely benign g.68542776G>A - CPT1A(NM_001876.4):c.1575+8C>T - CPT1A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1730C>T r.(?) p.(Ala577Val) Unknown - VUS g.68540743G>A g.68773275G>A - - CPT1A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1875+5T>C r.spl? p.? Unknown - likely benign g.68530090A>G g.68762622A>G CPT1A(NM_001876.4):c.1875+5T>C - CPT1A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 16 c.1933C>T r.(?) p.(Arg645Cys) Both (homozygous) - VUS g.68529098G>A g.68761630G>A - - CPT1A_000019 - - - - Germline - - - - - DNA SEQ, SEQ-NG blood - MPS3B, SPG54 - - - F yes Turkey Turkish - - - - 2 Dilek Gün Bilgiç
-?/. - c.1959C>T r.(?) p.(Ile653=) Unknown - likely benign g.68529072G>A g.68761604G>A - - CPT1A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2142+8C>T r.(=) p.(=) Unknown - likely benign g.68527685G>A g.68760217G>A CPT1A(NM_001876.4):c.2142+8C>T - CPT1A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2142+8C>T r.(=) p.(=) Unknown - likely benign g.68527685G>A - CPT1A(NM_001876.4):c.2142+8C>T - CPT1A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2198A>G r.(?) p.(Asn733Ser) Unknown - likely benign g.68527074T>C g.68759606T>C CPT1A(NM_001876.4):c.2198A>G (p.N733S) - CPT1A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2260C>T r.(?) p.(Leu754=) Unknown - likely benign g.68525174G>A g.68757706G>A - - CPT1A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7180C>G r.(=) p.(=) Unknown - likely benign g.68517932G>C - TESMIN(NM_004923.3):c.197C>G (p.(Ala66Gly)) - CPT1A_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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