Full data view for gene ACADM

Information The variants shown are described using the NM_000016.4 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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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.351A>C r.(=) p.(=) Unknown - VUS g.76199277A>C g.75733592A>C - - ACADM_000001 - - - - Germline - - - - - DNA SEQ-NG - - ?, JBS - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.351A>C r.(=) p.(=) Unknown - VUS g.76199277A>C g.75733592A>C - - ACADM_000001 - - - - Germline - - - - - DNA SEQ-NG - - ? - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.351A>C r.(=) p.(=) Unknown - VUS g.76199277A>C g.75733592A>C - - ACADM_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.351A>C r.(=) p.(=) Unknown - VUS g.76199277A>C g.75733592A>C - - ACADM_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.351A>C r.(=) p.(=) Unknown - VUS g.76199277A>C g.75733592A>C - - ACADM_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.351A>C r.(=) p.(=) Unknown - VUS g.76199277A>C g.75733592A>C - - ACADM_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.351A>C r.(=) p.(=) Unknown - VUS g.76199277A>C g.75733592A>C - - ACADM_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.351A>C r.(?) p.(Thr117=) Unknown - likely benign g.76199277A>C g.75733592A>C ACADM(NM_001127328.3):c.363A>C (p.T121=) - ACADM_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.351A>C r.(=) p.(=) Parent #1 - likely benign g.76199277A>C g.75733592A>C - - ACADM_000001 31 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs74090726 Germline - 31/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 31 Mohammed Faruq
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