Full data view for gene ACADM

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

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

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AscendingDNA change (cDNA)     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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Owner     
?/. - c.985A>G r.(?) p.(Lys329Glu) Unknown - VUS g.76226846A>G g.75761161A>G - - ACADM_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.985A>G r.(?) p.(Lys329Glu) Unknown - pathogenic g.76226846A>G g.75761161A>G ACADM(NM_001286043.1):c.1084A>G (p.K362E) - ACADM_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.985A>G r.(?) p.(Lys329Glu) Maternal (confirmed) - pathogenic g.76226846A>G g.75761161A>G - - ACADM_000003 - - - - Germline yes - - 0 - DNA SEQ-NG-I - - ACADMD - - - - - - - - - - - 1 Belen Perez
?/. - c.985A>G r.(?) p.(Lys329Glu) Parent #1 - VUS g.76226846A>G g.75761161A>G - - ACADM_000003 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs77931234 Germline - 2/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
+/. - c.985A>G r.(?) p.(Lys329Glu) Both (homozygous) - pathogenic (recessive) g.76226846A>G - - - ACADM_000003 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ACADMD M006 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.985A>G r.(?) p.(Lys329Glu) Both (homozygous) - pathogenic (recessive) g.76226846A>G - - - ACADM_000003 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ACADMD M008 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.985A>G r.(?) p.(Lys329Glu) Both (homozygous) - pathogenic (recessive) g.76226846A>G - - - ACADM_000003 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ACADMD M012 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.985A>G r.(?) p.(Lys329Glu) Both (homozygous) - pathogenic (recessive) g.76226846A>G - - - ACADM_000003 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ACADMD M013 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.985A>G r.(?) p.(Lys329Glu) Both (homozygous) - pathogenic (recessive) g.76226846A>G - - - ACADM_000003 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ACADMD M016 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.985A>G r.(?) p.(Lys329Glu) Parent #1 - pathogenic (recessive) g.76226846A>G - - - ACADM_000003 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ACADMD M017 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.985A>G r.(?) p.(Lys329Glu) Parent #2 - pathogenic (recessive) g.76226846A>G - - - ACADM_000003 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ACADMD M001 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.985A>G r.(?) p.(Lys329Glu) Unknown - pathogenic g.76226846A>G - ACADM(NM_001286043.1):c.1084A>G (p.K362E) - ACADM_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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