RGD:11087662 Rat Genome Database

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Variant: RGD:11087662 -  Homo sapiens

RGD ID: 11087662
RS ID: rs781424858
ClinVar ID: CV227908
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACADM  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 76,226,976
GRCh38 1 75,761,291
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
NG_007045.2:g.41934C>A
NC_000001.11:g.75761291C>A
NC_000001.10:g.76226976C>A
NM_000016.4:c.1115C>A
More... 		12/01/2021 missense variant conflicting interpretations of pathogenicity|uncertain significance infancy|neonatal 1-5 / 10 000 AllHighlyPenetrant; CARNITINE DEFICIENCY SECONDARY TO MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY; MCADD; Medium chain acyl-CoA dehydrogenase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ACADM
Accession:NM_001127328
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 376
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGFGRCCRCSLQVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVP
LIRRAWELGLMNTHIPENCGGLGLGTFDACLISEELAYGCTGVQTAIEGNSLGQMPIIIAGNDQQKKKYLGRMTEEPLMC
AYCVTEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGGKANWYFLLARSDPDPKAPANKAFTGFIVEADTPGIQIGRK
ELNMGQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGAFDKTRPVVAAGAVGLAQRALDEATKYALERKTFGKLLVEH
QAISFMLAEMAMKVELARMSYQRAAWEVDSGRRNTYYASIAKAFAGDIANQLATDDVQILGGNGFNTEYPVEKLMRDAKI
YQIYEGTSQIQRLIVAREHIDKYKN*

Gene Symbol:ACADM
Accession:NM_001286044
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 183
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWITNGGKANWYFLLARSDPDPKAPANKAFTGFIVEADTPGIQIGRKELNMGQRCSDTRGIVFEDVKVPKENVLIGDGAG
FKVAMGAFDKTRPVVAAGAVGLAQRALDEATKYALERKTFGKLLVEHQAISFMLAEMAMKVELARMSYQRAAWEVDSGRR
NTYYASIAKAFAGDIANQLATDDVQILGGNGFNTEYPVEKLMRDAKIYQIYEGTSQIQRLIVAREHIDKYKN*

Gene Symbol:ACADM
Accession:NM_000016
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 372
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGFGRCCRVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVPLIRR
AWELGLMNTHIPENCGGLGLGTFDACLISEELAYGCTGVQTAIEGNSLGQMPIIIAGNDQQKKKYLGRMTEEPLMCAYCV
TEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGGKANWYFLLARSDPDPKAPANKAFTGFIVEADTPGIQIGRKELNM
GQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGAFDKTRPVVAAGAVGLAQRALDEATKYALERKTFGKLLVEHQAIS
FMLAEMAMKVELARMSYQRAAWEVDSGRRNTYYASIAKAFAGDIANQLATDDVQILGGNGFNTEYPVEKLMRDAKIYQIY
EGTSQIQRLIVAREHIDKYKN*

Gene Symbol:ACADM
Accession:NM_001286042
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 336
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVPLIRRAWELGLMNTHIPENCGGLGLGTFDACLISEELAYGC
TGVQTAIEGNSLGQMPIIIAGNDQQKKKYLGRMTEEPLMCAYCVTEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGG
KANWYFLLARSDPDPKAPANKAFTGFIVEADTPGIQIGRKELNMGQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGA
FDKTRPVVAAGAVGLAQRALDEATKYALERKTFGKLLVEHQAISFMLAEMAMKVELARMSYQRAAWEVDSGRRNTYYASI
AKAFAGDIANQLATDDVQILGGNGFNTEYPVEKLMRDAKIYQIYEGTSQIQRLIVAREHIDKYKN*

Gene Symbol:ACADM
Accession:NM_001286043
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 405
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGFGRCCRVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVPLIRR
AWELGLMNTHIPENCDYSVCPLLEACTLYLDAFFLLLTGSNLNLHLNLGGLGLGTFDACLISEELAYGCTGVQTAIEGNS
LGQMPIIIAGNDQQKKKYLGRMTEEPLMCAYCVTEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGGKANWYFLLARS
DPDPKAPANKAFTGFIVEADTPGIQIGRKELNMGQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGAFDKTRPVVAAG
AVGLAQRALDEATKYALERKTFGKLLVEHQAISFMLAEMAMKVELARMSYQRAAWEVDSGRRNTYYASIAKAFAGDIANQ
LATDDVQILGGNGFNTEYPVEKLMRDAKIYQIYEGTSQIQRLIVAREHIDKYKN*
Variant Samples
Additional References at PubMed
PMID:20434380   PMID:25741868   PMID:27477829   PMID:28492532   PMID:32778825  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000211557 CLINVAR
  RCV002282048 CLINVAR
dbSNP (RS) rs781424858 CLINVAR
MedGen C0220710 CLINVAR
  CN169374 CLINVAR
NCBI Gene ACADM CLINVAR
OMIM 201450 CLINVAR
  607008 CLINVAR
SNOMED CT 128596003 CLINVAR