Full data view for gene ACAT1

Information The variants shown are described using the NM_000019.3 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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Reference     

ClinVar ID     

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Methylation     

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Disease     

ID_report     

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Owner     
-/. - c.-9T>A r.(?) p.(=) Unknown - benign g.107992325T>A g.108121598T>A ACAT1(NM_000019.4):c.-9T>A - ACAT1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-9T>A r.(?) p.(=) Unknown - benign g.107992325T>A g.108121598T>A ACAT1(NM_000019.4):c.-9T>A - ACAT1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1A>G r.(?) p.? Unknown - pathogenic g.107992334A>G - ACAT1(NM_000019.3):c.1A>G (p.(Met1?)) - ACAT1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.13G>C r.(?) p.(Ala5Pro) Unknown - benign g.107992346G>C g.108121619G>C ACAT1(NM_000019.4):c.13G>C (p.A5P) - ACAT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.13G>C r.(?) p.(Ala5Pro) Unknown - benign g.107992346G>C g.108121619G>C ACAT1(NM_000019.4):c.13G>C (p.A5P) - ACAT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.91C>T r.(?) p.(Arg31Trp) Unknown - VUS g.108002652C>T - ACAT1(NM_000019.4):c.91C>T (p.(Arg31Trp)) - ACAT1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.200T>G r.(?) p.(Leu67Arg) Parent #2 ACMG likely pathogenic (recessive) g.108004626T>G g.108133899T>G - - ACAT1_000014 Variant classified as per ACMG guidelines (Richards et al 2015) and to the recently developed ACMG scoring system (Tavtigian et al 2020). Identified as a compound heterozygous with a splicing microdeletion variant NM_000019.4:c.826+3_826+6del - - rs1425401797 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing aciduria, alpha-methylacetoacetic 3bINP-017 PubMed: Vela-Amieva 2024 Brother affected (died at 20y11m) F no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
-?/. - c.273G>T r.(?) p.(Met91Ile) Unknown - likely benign g.108004982G>T - ACAT1(NM_000019.3):c.273G>T (p.M91I) - ACAT1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.455G>C r.(?) p.(Gly152Ala) Both (homozygous) - likely pathogenic g.108009644G>C g.108138917G>C - - ACAT1_000018 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat24 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
+?/. - c.472A>G r.(?) p.(Asn158Asp) Parent #1 - likely pathogenic g.108009661A>G g.108138934A>G - - ACAT1_000005 23 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs148639841 Germline - 23/2757 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 23 Mohammed Faruq
+/. 6 c.473A>G r.(?) p.(Asn158Ser) Both (homozygous) ACMG pathogenic (recessive) g.108009662A>G g.108138935A>G - - ACAT1_000015 This variant was confirmed by Sanger sequencing. Other pathogenic variant in TTN gene was also identified in WES analysis as a secondary finding (NM_001267550.2:c.87470_87471del); Abdelkreem 2019:31268215, Sarafoglou 2011:21669895, Sakurai 2007:17236799 - ClinVar-198030 rs199524907 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing aciduria, alpha-methylacetoacetic 3bINP-047 PubMed: Vela-Amieva 2024 Likely consanguinity. Co-occurrence of two different monogenic diseases (a pathogenic variant in the TTN gene was identified as a secondary finding). F no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
+?/. - c.547G>A r.(?) p.(Gly183Arg) Unknown - likely pathogenic g.108009736G>A g.108139009G>A ACAT1(NM_000019.4):c.547G>A (p.G183R) - ACAT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.756_758del r.(?) p.(Glu252del) Unknown - VUS g.108012357_108012359del g.108141630_108141632del NM_000019:c.752_754del (251_252del) - ACAT1_000007 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS DEE HSJ0048 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) M - Canada French-Canadian - - - pharmaco-resistant seizures 1 Johan den Dunnen
+?/. - c.826+3_826+6del r.spl? p.? Parent #1 ACMG likely pathogenic (recessive) g.108012430_108012433del g.108141703_108141706del - - ACAT1_000013 Detected in trans with the missense variant NM_000019.4:c.200T>G, p.Leu67Arg. Family history is highly specific for a disease with a single genetic etiology - ClinVar-1964896 rs754619277 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing aciduria, alpha-methylacetoacetic 3bINP-017 PubMed: Vela-Amieva 2024 Brother affected (died at 20y11m) F no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
?/. - c.898G>A r.(?) p.(Ala300Thr) Unknown - VUS g.108013235G>A - ACAT1(NM_000019.3):c.898G>A (p.(Ala300Thr)) - ACAT1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.979A>G r.(?) p.(Ile327Val) Unknown - VUS g.108014748A>G - ACAT1(NM_000019.4):c.979A>G (p.(Ile327Val)) - ACAT1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1124A>G r.(?) p.(Asn375Ser) Unknown - pathogenic g.108017047A>G - ACAT1(NM_000019.4):c.1124A>G (p.(Asn375Ser)) - ACAT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1164-174C>G r.(=) p.(=) Unknown - likely benign g.108017823C>G - ACAT1(NM_000019.4):c.1164-174C>G - ACAT1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1164-12_1164-9del r.(=) p.(=) Unknown - VUS g.108017985_108017988del - ACAT1(NM_001386677.1):c.1173_1176del (p.(Phe391LeufsTer14)) - ACAT1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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