RGD:13788008 Rat Genome Database

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Variant: RGD:13788008 -  Homo sapiens

RGD ID: 13788008
RS ID: rs1555243966
ClinVar ID: CV546975
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: ACADS  
Reference Nucleotide: -
Variant Nucleotide: AAC
Position
Assembly Chr Position
GRCh37 12 121,175,257
GRCh38 12 120,737,454
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_000008.1:p.Ala153_Leu154insGln
NP_001289483.1:p.Ala153_Leu154insGln
NG_007991.1:g.16688_16689insAAC
NC_000012.12:g.120737455_120737456insAAC
More... 		01/24/2017 inframe_insertion uncertain significance ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; Lipid-storage myopathy secondary to short chain acyl CoA dehydrogenase deficiency; 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 A (synonymous)
Amino Acid Position: 153
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAALLARASGPARRALCPRAWRQLHTIYQSVELPETHQMLLQTCRDFAEKELFPIAAQVDKEHLFPAAQVKKMGGLGLL
AMDVPEELGGAGLDYLAYAIAMEEISRGCASTGVIMSVNNSLYLGPILKFGSKEQKQAWVTPFTSGDKIGCFALSEPGPS
LLGPTGPIFALGQVGCPCPSSAATEACTFPRSRQRVSRPELLREGISAFLVPMPTPGLTLGKKEDKLGIRGSSTANLIFE
DCRIPKDSILGEPGMGFKIAMQTLDMGRIGIASQALGIAQTALDCAVNYAENRMAFGAPLTKLQVIQFKLADMALALESA
RLLTWRAAMLKDNKKPFIKEAAMAKLAASEAATAISHQAIQILGGMGYVTEMPAERHYRDARITEIYEGTSEIQRLVIAG
HLLRSYRS*

Gene Symbol:ACADS
Accession:NM_000017
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 153
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAALLARASGPARRALCPRAWRQLHTIYQSVELPETHQMLLQTCRDFAEKELFPIAAQVDKEHLFPAAQVKKMGGLGLL
AMDVPEELGGAGLDYLAYAIAMEEISRGCASTGVIMSVNNSLYLGPILKFGSKEQKQAWVTPFTSGDKIGCFALSEPGNG
SDAGAASTTARAEGDSWVLNGTKAWITNAWEASAAVVFASTDRALQNKGISAFLVPMPTPGLTLGKKEDKLGIRGSSTAN
LIFEDCRIPKDSILGEPGMGFKIAMQTLDMGRIGIASQALGIAQTALDCAVNYAENRMAFGAPLTKLQVIQFKLADMALA
LESARLLTWRAAMLKDNKKPFIKEAAMAKLAASEAATAISHQAIQILGGMGYVTEMPAERHYRDARITEIYEGTSEIQRL
VIAGHLLRSYRS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000665149 CLINVAR
dbSNP (RS) rs1555243966 CLINVAR
MedGen C0342783 CLINVAR
NCBI Gene ACADS CLINVAR
OMIM 201470 CLINVAR
  606885 CLINVAR
SNOMED CT 124166007 CLINVAR