RGD:15112904 Rat Genome Database

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Variant: RGD:15112904 -  Homo sapiens

RGD ID: 15112904
RS ID: rs376632479
ClinVar ID: CV691114
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HADHA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 26,437,420
GRCh38 2 26,214,551
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000182.5:c.810G>A
NG_007121.1:g.35070G>A
NC_000002.12:g.26214551C>T
NC_000002.11:g.26437420C>T
More... 		03/11/2020 synonymous variant likely benign|uncertain significance Deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase; LCHAD Deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:HADHA
Accession:NM_000182
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 270
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVACRAIGILSRFSAFRILRSRGYICRNFTGSSALLTRTHINYGVKGDVAVVRINSPNSKVNTLSKELHSEFSEVMNEIW
ASDQIRSAVLISSKPGCFIAGADINMLAACKTLQEVTQLSQEAQRIVEKLEKSTKPIVAAINGSCLGGGLEVAISCQYRI
ATKDRKTVLGTPEVLLGALPGAGGTQRLPKMVGVPAALDMMLTGRSIRADRAKKMGLVDQLVEPLGPGLKPPEERTIEYL
EEVAITFAKGLADKKISPKRDKGLVEKLTAYAMTIPFVRQQVYKKVEEKVRKQTKGLYPAPLKIIDVVKTGIEQGSDAGY
LCESQKFGELVMTKESKALMGLYHGQVLCKKNKFGAPQKDVKHLAILGAGLMGAGIAQVSVDKGLKTILKDATLTALDRG
QQQVFKGLNDKVKKKALTSFERDSIFSNLTGQLDYQGFEKADMVIEAVFEDLSLKHRVLKEVEAVIPDHCIFASNTSALP
ISEIAAVSKRPEKVIGMHYFSPVDKMQLLEIITTEKTSKDTSASAVAVGLKQGKVIIVVKDGPGFYTTRCLAPMMSEVIR
ILQEGVDPKKLDSLTTSFGFPVGAATLVDEVGVDVAKHVAEDLGKVFGERFGGGNPELLTQMVSKGFLGRKSGKGFYIYQ
EGVKRKDLNSDMDSILASLKLPPKSEVSSDEDIQFRLVTRFVNEAVMCLQEGILATPAEGDIGAVFGLGFPPCLGGPFRF
VDLYGAQKIVDRLKKYEAAYGKQFTPCQLLADHANSPNKKFYQ*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000872628 CLINVAR
  RCV001271663 CLINVAR
  RCV003736932 CLINVAR
  RCV003948190 CLINVAR
dbSNP (RS) rs376632479 CLINVAR
MedGen C1969443 CLINVAR
  C3661900 CLINVAR
  C3711645 CLINVAR
NCBI Gene HADHA CLINVAR
OMIM 600890 CLINVAR
  609016 CLINVAR
SNOMED CT 237999008 CLINVAR