RGD:15135913 Rat Genome Database

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Variant: RGD:15135913 -  Homo sapiens

RGD ID: 15135913
RS ID: rs771649282
ClinVar ID: CV685826
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACADM  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 76,198,405
GRCh38 1 75,732,720
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001127328.3:c.207A>C
NM_000016.6:c.195A>C
NM_000016.5:c.195A>C
NG_007045.2:g.13363A>C
More... 		11/27/2018 5 prime utr variant likely benign 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_001286044
Location:5UTRS;EXON

Gene Symbol:ACADM
Accession:NM_001286043
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 65
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGFGRCCRVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVPLIRR
AWELGLMNTHIPENCDYSVCPLLEACTLYLDAFFLLLTGSNLNLHLNLGGLGLGTFDACLISEELAYGCTGVQTAIEGNS
LGQMPIIIAGNDQQKKKYLGRMTEEPLMCAYCVTEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGGKANWYFLLARS
DPDPKAPANKAFTGFIVEADTPGIQIGRKELNMGQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGAFDKTRPVVAAG
AVGLAQRALDEATKYALERKTFGKLLVEHQAISFMLAEMAMKVELARMSYQRAAWEVDSGRRNTYYASIAKAFAGDIANQ
LATDAVQILGGNGFNTEYPVEKLMRDAKIYQIYEGTSQIQRLIVAREHIDKYKN*

Gene Symbol:ACADM
Accession:NM_001127328
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 69
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGFGRCCRCSLQVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVP
LIRRAWELGLMNTHIPENCGGLGLGTFDACLISEELAYGCTGVQTAIEGNSLGQMPIIIAGNDQQKKKYLGRMTEEPLMC
AYCVTEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGGKANWYFLLARSDPDPKAPANKAFTGFIVEADTPGIQIGRK
ELNMGQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGAFDKTRPVVAAGAVGLAQRALDEATKYALERKTFGKLLVEH
QAISFMLAEMAMKVELARMSYQRAAWEVDSGRRNTYYASIAKAFAGDIANQLATDAVQILGGNGFNTEYPVEKLMRDAKI
YQIYEGTSQIQRLIVAREHIDKYKN*

Gene Symbol:ACADM
Accession:NM_000016
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 65
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGFGRCCRVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVPLIRR
AWELGLMNTHIPENCGGLGLGTFDACLISEELAYGCTGVQTAIEGNSLGQMPIIIAGNDQQKKKYLGRMTEEPLMCAYCV
TEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGGKANWYFLLARSDPDPKAPANKAFTGFIVEADTPGIQIGRKELNM
GQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGAFDKTRPVVAAGAVGLAQRALDEATKYALERKTFGKLLVEHQAIS
FMLAEMAMKVELARMSYQRAAWEVDSGRRNTYYASIAKAFAGDIANQLATDAVQILGGNGFNTEYPVEKLMRDAKIYQIY
EGTSQIQRLIVAREHIDKYKN*

Gene Symbol:ACADM
Accession:NM_001286042
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVPLIRRAWELGLMNTHIPENCGGLGLGTFDACLISEELAYGC
TGVQTAIEGNSLGQMPIIIAGNDQQKKKYLGRMTEEPLMCAYCVTEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGG
KANWYFLLARSDPDPKAPANKAFTGFIVEADTPGIQIGRKELNMGQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGA
FDKTRPVVAAGAVGLAQRALDEATKYALERKTFGKLLVEHQAISFMLAEMAMKVELARMSYQRAAWEVDSGRRNTYYASI
AKAFAGDIANQLATDAVQILGGNGFNTEYPVEKLMRDAKIYQIYEGTSQIQRLIVAREHIDKYKN*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000864398 CLINVAR
dbSNP (RS) rs771649282 CLINVAR
MedGen C0220710 CLINVAR
NCBI Gene ACADM CLINVAR
OMIM 201450 CLINVAR
  607008 CLINVAR
SNOMED CT 128596003 CLINVAR