Full data view for gene CPT1A

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

13 entries on 1 page. Showing entries 1 - 13.
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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.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 - - - - PubMed: Bell 2011 - - - - - - 0 - - 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 - - - - - - 0 - - 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 - - ? - 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 - - - - 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 - - - - - - 0 - - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - 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 - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 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 - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 3 Mohammed Faruq
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