RGD:12906755 Rat Genome Database

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Variant: RGD:12906755 -  Homo sapiens

RGD ID: 12906755
RS ID: rs183161718
ClinVar ID: CV415324
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACADS  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 121,177,142
GRCh38 12 120,739,339
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007991.1:g.18572C>T
NC_000012.12:g.120739339C>T
NC_000012.11:g.121177142C>T
NP_000008.1:p.Pro377Leu
More... 		11/08/2021 missense variant likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; Lipid-storage myopathy secondary to short chain acyl CoA dehydrogenase deficiency; none provided; SCAD DEFICIENCY, MILD
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ACADS
Accession:NM_000017
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 377
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAALLARASGPARRALCPRAWRQLHTIYQSVELPETHQMLLQTCRDFAEKELFPIAAQVDKEHLFPAAQVKKMGGLGLL
AMDVPEELGGAGLDYLAYAIAMEEISRGCASTGVIMSVNNSLYLGPILKFGSKEQKQAWVTPFTSGDKIGCFALSEPGNG
SDAGAASTTARAEGDSWVLNGTKAWITNAWEASAAVVFASTDRALQNKGISAFLVPMPTPGLTLGKKEDKLGIRGSSTAN
LIFEDCRIPKDSILGEPGMGFKIAMQTLDMGRIGIASQALGIAQTALDCAVNYAENRMAFGAPLTKLQVIQFKLADMALA
LESARLLTWRAAMLKDNKKPFIKEAAMAKLAASEAATAISHQAIQILGGMGYVTEMLAERHYRDARITEIYEGTSEIQRL
VIAGHLLRSYRS*

Gene Symbol:ACADS
Accession:NM_001302554
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 373
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAALLARASGPARRALCPRAWRQLHTIYQSVELPETHQMLLQTCRDFAEKELFPIAAQVDKEHLFPAAQVKKMGGLGLL
AMDVPEELGGAGLDYLAYAIAMEEISRGCASTGVIMSVNNSLYLGPILKFGSKEQKQAWVTPFTSGDKIGCFALSEPGPS
LLGPTGPIFALGQVGCPCPSSAATEACTFPRSRQRVSRPELLREGISAFLVPMPTPGLTLGKKEDKLGIRGSSTANLIFE
DCRIPKDSILGEPGMGFKIAMQTLDMGRIGIASQALGIAQTALDCAVNYAENRMAFGAPLTKLQVIQFKLADMALALESA
RLLTWRAAMLKDNKKPFIKEAAMAKLAASEAATAISHQAIQILGGMGYVTEMLAERHYRDARITEIYEGTSEIQRLVIAG
HLLRSYRS*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:27466294   PMID:28492532   PMID:32710939  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000489608 CLINVAR
  RCV000635337 CLINVAR
dbSNP (RS) rs183161718 CLINVAR
MedGen C0342783 CLINVAR
  C3661900 CLINVAR
NCBI Gene ACADS CLINVAR
OMIM 201470 CLINVAR
  606885 CLINVAR
SNOMED CT 124166007 CLINVAR