RGD:10052934 Rat Genome Database

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Variant: RGD:10052934 -  Homo sapiens

RGD ID: 10052934
RS ID: rs754359356
ClinVar ID: CV195540
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACADM  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 76,205,754
GRCh38 1 75,740,069
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
NM_001286043.2:c.657T>A
NP_000007.1:p.Asn186Lys
NG_007045.2:g.20712T>A
NC_000001.11:g.75740069T>A
More... 		10/15/2018 5 prime utr variant|missense variant likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance infancy|neonatal 1-5 / 10 000 CARNITINE DEFICIENCY SECONDARY TO MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY; MCADD; Medium chain acyl-CoA dehydrogenase deficiency; none provided
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_001127328
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 190
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGFGRCCRCSLQVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVP
LIRRAWELGLMNTHIPENCGGLGLGTFDACLISEELAYGCTGVQTAIEGNSLGQMPIIIAGNDQQKKKYLGRMTEEPLMC
AYCVTEPGAGSDVAGIKTKAEKKGDEYIIKGQKMWITNGGKANWYFLLARSDPDPKAPANKAFTGFIVEADTPGIQIGRK
ELNMGQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGAFDKTRPVVAAGAVGLAQRALDEATKYALERKTFGKLLVEH
QAISFMLAEMAMKVELARMSYQRAAWEVDSGRRNTYYASIAKAFAGDIANQLATDAVQILGGNGFNTEYPVEKLMRDAKI
YQIYEGTSQIQRLIVAREHIDKYKN*

Gene Symbol:ACADM
Accession:NM_001286043
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 219
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGFGRCCRVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVPLIRR
AWELGLMNTHIPENCDYSVCPLLEACTLYLDAFFLLLTGSNLNLHLNLGGLGLGTFDACLISEELAYGCTGVQTAIEGNS
LGQMPIIIAGNDQQKKKYLGRMTEEPLMCAYCVTEPGAGSDVAGIKTKAEKKGDEYIIKGQKMWITNGGKANWYFLLARS
DPDPKAPANKAFTGFIVEADTPGIQIGRKELNMGQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGAFDKTRPVVAAG
AVGLAQRALDEATKYALERKTFGKLLVEHQAISFMLAEMAMKVELARMSYQRAAWEVDSGRRNTYYASIAKAFAGDIANQ
LATDAVQILGGNGFNTEYPVEKLMRDAKIYQIYEGTSQIQRLIVAREHIDKYKN*

Gene Symbol:ACADM
Accession:NM_001286042
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 150
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVPLIRRAWELGLMNTHIPENCGGLGLGTFDACLISEELAYGC
TGVQTAIEGNSLGQMPIIIAGNDQQKKKYLGRMTEEPLMCAYCVTEPGAGSDVAGIKTKAEKKGDEYIIKGQKMWITNGG
KANWYFLLARSDPDPKAPANKAFTGFIVEADTPGIQIGRKELNMGQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGA
FDKTRPVVAAGAVGLAQRALDEATKYALERKTFGKLLVEHQAISFMLAEMAMKVELARMSYQRAAWEVDSGRRNTYYASI
AKAFAGDIANQLATDAVQILGGNGFNTEYPVEKLMRDAKIYQIYEGTSQIQRLIVAREHIDKYKN*

Gene Symbol:ACADM
Accession:NM_000016
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 186
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGFGRCCRVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVPLIRR
AWELGLMNTHIPENCGGLGLGTFDACLISEELAYGCTGVQTAIEGNSLGQMPIIIAGNDQQKKKYLGRMTEEPLMCAYCV
TEPGAGSDVAGIKTKAEKKGDEYIIKGQKMWITNGGKANWYFLLARSDPDPKAPANKAFTGFIVEADTPGIQIGRKELNM
GQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGAFDKTRPVVAAGAVGLAQRALDEATKYALERKTFGKLLVEHQAIS
FMLAEMAMKVELARMSYQRAAWEVDSGRRNTYYASIAKAFAGDIANQLATDAVQILGGNGFNTEYPVEKLMRDAKIYQIY
EGTSQIQRLIVAREHIDKYKN*
Variant Samples
Additional References at PubMed
PMID:20434380   PMID:22542437   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000211498 CLINVAR
  RCV000421950 CLINVAR
dbSNP (RS) rs754359356 CLINVAR
MedGen C0220710 CLINVAR
  C3661900 CLINVAR
NCBI Gene ACADM CLINVAR
OMIM 201450 CLINVAR
  607008 CLINVAR
SNOMED CT 128596003 CLINVAR