RGD:13211939 Rat Genome Database

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Variant: RGD:13211939 -  Homo sapiens

RGD ID: 13211939
RS ID: rs202078273
ClinVar ID: CV425955
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACADS  LOC127825341  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 121,176,967
GRCh38 12 120,739,164
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.18397G>A
NC_000012.12:g.120739164G>A
NC_000012.11:g.121176967G>A
NP_000008.1:p.Ala352Thr
More... 		02/01/2022 missense variant 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_001302554
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 348
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAALLARASGPARRALCPRAWRQLHTIYQSVELPETHQMLLQTCRDFAEKELFPIAAQVDKEHLFPAAQVKKMGGLGLL
AMDVPEELGGAGLDYLAYAIAMEEISRGCASTGVIMSVNNSLYLGPILKFGSKEQKQAWVTPFTSGDKIGCFALSEPGPS
LLGPTGPIFALGQVGCPCPSSAATEACTFPRSRQRVSRPELLREGISAFLVPMPTPGLTLGKKEDKLGIRGSSTANLIFE
DCRIPKDSILGEPGMGFKIAMQTLDMGRIGIASQALGIAQTALDCAVNYAENRMAFGAPLTKLQVIQFKLADMALALESA
RLLTWRAAMLKDNKKPFIKEAAMAKLATSEAATAISHQAIQILGGMGYVTEMPAERHYRDARITEIYEGTSEIQRLVIAG
HLLRSYRS*

Gene Symbol:ACADS
Accession:NM_000017
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 352
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAALLARASGPARRALCPRAWRQLHTIYQSVELPETHQMLLQTCRDFAEKELFPIAAQVDKEHLFPAAQVKKMGGLGLL
AMDVPEELGGAGLDYLAYAIAMEEISRGCASTGVIMSVNNSLYLGPILKFGSKEQKQAWVTPFTSGDKIGCFALSEPGNG
SDAGAASTTARAEGDSWVLNGTKAWITNAWEASAAVVFASTDRALQNKGISAFLVPMPTPGLTLGKKEDKLGIRGSSTAN
LIFEDCRIPKDSILGEPGMGFKIAMQTLDMGRIGIASQALGIAQTALDCAVNYAENRMAFGAPLTKLQVIQFKLADMALA
LESARLLTWRAAMLKDNKKPFIKEAAMAKLATSEAATAISHQAIQILGGMGYVTEMPAERHYRDARITEIYEGTSEIQRL
VIAGHLLRSYRS*
Variant Samples
Additional References at PubMed
PMID:18836889   PMID:25741868   PMID:27051597   PMID:28492532   PMID:30612563  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000498121 CLINVAR
  RCV000673648 CLINVAR
dbSNP (RS) rs202078273 CLINVAR
MedGen C0342783 CLINVAR
  C3661900 CLINVAR
NCBI Gene ACADS CLINVAR
OMIM 201470 CLINVAR
  606885 CLINVAR
SNOMED CT 124166007 CLINVAR