rs77931234 Rat Genome Database

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Variant: rs77931234 -  Homo sapiens

RGD ID: 8557529
RS ID: rs77931234
ClinVar ID: CV18625
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACADM  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 76,226,846
GRCh38 1 75,761,161
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000001.11:g.75761161A>G
NC_000001.10:g.76226846A>G
NM_000016.4:c.985A>G
NP_001120800.1:p.Lys333Glu
More... 		08/19/2022 missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity neonatal/infancy 1-5 / 10 000|1-9 / 100 000 Abnormality of lipid metabolism; CARNITINE DEFICIENCY SECONDARY TO MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY; Dyslipidemia; Epileptic spasms; MCADD; Medium chain acyl-CoA dehydrogenase deficiency; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
GWAS Catalog Data
GWAS Catalog Study Disease Trait Study Size Risk Allele Risk Allele Frequency P Value P Value MLOG SNP Passing QC Reported Odds Ratio or Beta-coefficient Ontology Accession PubMed
GCST90300600 Metabolite levels (cis-4-decenoate (10:1n6)) 2,431 European, Hispanic or African American individuals G 0.009 2E-18 17.69897000433602 Illumina [15660619] 1.332 cis-4-decenoate (10:1n6) measurement (EFO:0800318)
 PMID:37253714
GCST90300709 Metabolite levels (nonanoylcarnitine (C9); C9 carnitine; C9_carnitine) 4,021 European, Hispanic or African American individuals G 0.0075 3E-17 16.522878745280337 Illumina [15660619] 1.1 nonanoylcarnitine (C9) measurement (EFO:0800381)
 PMID:37253714
GCST90010759 Hexanoylcarnitine levels 9,363 Caucasian ancestry individuals G 0.0095 7E-79 78.15490195998575 Affymetrix, Illumina [6083013] (imputed) 18.804 carnitine measurement (EFO:0010469)
 PMID:33414548

Variant Details
Variant Transcripts
Gene Symbol:ACADM
Accession:NM_001127328
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 333
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGFGRCCRCSLQVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVP
LIRRAWELGLMNTHIPENCGGLGLGTFDACLISEELAYGCTGVQTAIEGNSLGQMPIIIAGNDQQKKKYLGRMTEEPLMC
AYCVTEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGGKANWYFLLARSDPDPKAPANKAFTGFIVEADTPGIQIGRK
ELNMGQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGAFDKTRPVVAAGAVGLAQRALDEATKYALERKTFGKLLVEH
QAISFMLAEMAMEVELARMSYQRAAWEVDSGRRNTYYASIAKAFAGDIANQLATDAVQILGGNGFNTEYPVEKLMRDAKI
YQIYEGTSQIQRLIVAREHIDKYKN*

Gene Symbol:ACADM
Accession:NM_000016
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 329
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGFGRCCRVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVPLIRR
AWELGLMNTHIPENCGGLGLGTFDACLISEELAYGCTGVQTAIEGNSLGQMPIIIAGNDQQKKKYLGRMTEEPLMCAYCV
TEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGGKANWYFLLARSDPDPKAPANKAFTGFIVEADTPGIQIGRKELNM
GQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGAFDKTRPVVAAGAVGLAQRALDEATKYALERKTFGKLLVEHQAIS
FMLAEMAMEVELARMSYQRAAWEVDSGRRNTYYASIAKAFAGDIANQLATDAVQILGGNGFNTEYPVEKLMRDAKIYQIY
EGTSQIQRLIVAREHIDKYKN*

Gene Symbol:ACADM
Accession:NM_001286043
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 362
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGFGRCCRVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVPLIRR
AWELGLMNTHIPENCDYSVCPLLEACTLYLDAFFLLLTGSNLNLHLNLGGLGLGTFDACLISEELAYGCTGVQTAIEGNS
LGQMPIIIAGNDQQKKKYLGRMTEEPLMCAYCVTEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGGKANWYFLLARS
DPDPKAPANKAFTGFIVEADTPGIQIGRKELNMGQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGAFDKTRPVVAAG
AVGLAQRALDEATKYALERKTFGKLLVEHQAISFMLAEMAMEVELARMSYQRAAWEVDSGRRNTYYASIAKAFAGDIANQ
LATDAVQILGGNGFNTEYPVEKLMRDAKIYQIYEGTSQIQRLIVAREHIDKYKN*

Gene Symbol:ACADM
Accession:NM_001286042
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 293
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVPLIRRAWELGLMNTHIPENCGGLGLGTFDACLISEELAYGC
TGVQTAIEGNSLGQMPIIIAGNDQQKKKYLGRMTEEPLMCAYCVTEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGG
KANWYFLLARSDPDPKAPANKAFTGFIVEADTPGIQIGRKELNMGQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGA
FDKTRPVVAAGAVGLAQRALDEATKYALERKTFGKLLVEHQAISFMLAEMAMEVELARMSYQRAAWEVDSGRRNTYYASI
AKAFAGDIANQLATDAVQILGGNGFNTEYPVEKLMRDAKIYQIYEGTSQIQRLIVAREHIDKYKN*

Gene Symbol:ACADM
Accession:NM_001286044
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWITNGGKANWYFLLARSDPDPKAPANKAFTGFIVEADTPGIQIGRKELNMGQRCSDTRGIVFEDVKVPKENVLIGDGAG
FKVAMGAFDKTRPVVAAGAVGLAQRALDEATKYALERKTFGKLLVEHQAISFMLAEMAMEVELARMSYQRAAWEVDSGRR
NTYYASIAKAFAGDIANQLATDAVQILGGNGFNTEYPVEKLMRDAKIYQIYEGTSQIQRLIVAREHIDKYKN*
Variant Samples
Additional References at PubMed
PMID:1361190   PMID:1447668   PMID:1570195   PMID:1601002   PMID:1671131   PMID:1678810   PMID:1679031   PMID:1684086   PMID:1756601   PMID:1902818   PMID:1972503   PMID:2046713  
PMID:2251268   PMID:2393404   PMID:2394825   PMID:3786030   PMID:6434827   PMID:7720752   PMID:7730333   PMID:7904584   PMID:8104486   PMID:8770876   PMID:9158144   PMID:9797589  
PMID:11263545   PMID:11346377   PMID:11349232   PMID:11486912   PMID:15832312   PMID:16291504   PMID:16617240   PMID:16737882   PMID:16763904   PMID:18241067   PMID:19224950   PMID:20036593  
PMID:20301597   PMID:20434380   PMID:21228398   PMID:22630369   PMID:23028790   PMID:23509891   PMID:23574375   PMID:24718418   PMID:24966162   PMID:25087612   PMID:25333063   PMID:25741868  
PMID:25940036   PMID:26223887   PMID:26467025   PMID:26947917   PMID:27976856   PMID:28492532   PMID:35281663  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000003769 CLINVAR
  RCV000077895 CLINVAR
  RCV001526621 CLINVAR
  RCV002227014 CLINVAR
  RCV002251863 CLINVAR
  RCV002274875 CLINVAR
  RCV002512722 CLINVAR
  RCV003430631 CLINVAR
dbSNP (RS) rs77931234 CLINVAR
GWAS Catalog GCST90010759 GWAS Catalog
MedGen C0220710 CLINVAR
  C0950123 CLINVAR
  C1527366 CLINVAR
  C1860081 CLINVAR
  C3661900 CLINVAR
  C4025650 CLINVAR
NCBI Gene ACADM CLINVAR
OMIM 201450 CLINVAR
  607008 CLINVAR
OMIM Allele 607008.0001 CLINVAR
SNOMED CT 128596003 CLINVAR