RGD:156131505 Rat Genome Database

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Variant: RGD:156131505 -  Homo sapiens

RGD ID: 156131505
ClinVar ID: CV1885549
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HADHA  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 26,455,089
GRCh38 2 26,232,221
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_747t1:c.512C>T
NM_000182.5:c.512C>T
LRG_747:g.17401C>T
NG_007121.2:g.17401C>T
More... 		09/10/2022 missense variant uncertain significance Deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase; LCHAD Deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
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: T to I (nonsynonymous)
Amino Acid Position: 171
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVACRAIGILSRFSAFRILRSRGYICRNFTGSSALLTRTHINYGVKGDVAVVRINSPNSKVNTLSKELHSEFSEVMNEIW
ASDQIRSAVLISSKPGCFIAGADINMLAACKTLQEVTQLSQEAQRIVEKLEKSTKPIVAAINGSCLGGGLEVAISCQYRI
ATKDRKTVLGIPEVLLGALPGAGGTQRLPKMVGVPAALDMMLTGRSIRADRAKKMGLVDQLVEPLGPGLKPPEERTIEYL
EEVAITFAKGLADKKISPKRDKGLVEKLTAYAMTIPFVRQQVYKKVEEKVRKQTKGLYPAPLKIIDVVKTGIEQGSDAGY
LCESQKFGELVMTKESKALMGLYHGQVLCKKNKFGAPQKDVKHLAILGAGLMGAGIAQVSVDKGLKTILKDATLTALDRG
QQQVFKGLNDKVKKKALTSFERDSIFSNLTGQLDYQGFEKADMVIEAVFEDLSLKHRVLKEVEAVIPDHCIFASNTSALP
ISEIAAVSKRPEKVIGMHYFSPVDKMQLLEIITTEKTSKDTSASAVAVGLKQGKVIIVVKDGPGFYTTRCLAPMMSEVIR
ILQEGVDPKKLDSLTTSFGFPVGAATLVDEVGVDVAKHVAEDLGKVFGERFGGGNPELLTQMVSKGFLGRKSGKGFYIYQ
EGVKRKDLNSDMDSILASLKLPPKSEVSSDEDIQFRLVTRFVNEAVMCLQEGILATPAEGDIGAVFGLGFPPCLGGPFRF
VDLYGAQKIVDRLKKYEAAYGKQFTPCQLLADHANSPNKKFYQ*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003081857 CLINVAR
MedGen C1969443 CLINVAR
NCBI Gene HADHA CLINVAR
OMIM 600890 CLINVAR
  609016 CLINVAR
SNOMED CT 237999008 CLINVAR