RGD:150429537 Rat Genome Database

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Variant: RGD:150429537 -  Homo sapiens

RGD ID: 150429537
RS ID: rs2147784410
ClinVar ID: CV1189272
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HADHA  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 26,459,785
GRCh38 2 26,236,917
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_747t1:c.252A>C
NM_000182.5:c.252A>C
LRG_747:g.12705A>C
NG_007121.2:g.12705A>C
More...
07/14/2021 missense variant uncertain significance Deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase; LCHAD 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: Q to H (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVACRAIGILSRFSAFRILRSRGYICRNFTGSSALLTRTHINYGVKGDVAVVRINSPNSKVNTLSKELHSEFSEVMNEIW
ASDHIRSAVLISSKPGCFIAGADINMLAACKTLQEVTQLSQEAQRIVEKLEKSTKPIVAAINGSCLGGGLEVAISCQYRI
ATKDRKTVLGTPEVLLGALPGAGGTQRLPKMVGVPAALDMMLTGRSIRADRAKKMGLVDQLVEPLGPGLKPPEERTIEYL
EEVAITFAKGLADKKISPKRDKGLVEKLTAYAMTIPFVRQQVYKKVEEKVRKQTKGLYPAPLKIIDVVKTGIEQGSDAGY
LCESQKFGELVMTKESKALMGLYHGQVLCKKNKFGAPQKDVKHLAILGAGLMGAGIAQVSVDKGLKTILKDATLTALDRG
QQQVFKGLNDKVKKKALTSFERDSIFSNLTGQLDYQGFEKADMVIEAVFEDLSLKHRVLKEVEAVIPDHCIFASNTSALP
ISEIAAVSKRPEKVIGMHYFSPVDKMQLLEIITTEKTSKDTSASAVAVGLKQGKVIIVVKDGPGFYTTRCLAPMMSEVIR
ILQEGVDPKKLDSLTTSFGFPVGAATLVDEVGVDVAKHVAEDLGKVFGERFGGGNPELLTQMVSKGFLGRKSGKGFYIYQ
EGVKRKDLNSDMDSILASLKLPPKSEVSSDEDIQFRLVTRFVNEAVMCLQEGILATPAEGDIGAVFGLGFPPCLGGPFRF
VDLYGAQKIVDRLKKYEAAYGKQFTPCQLLADHANSPNKKFYQ*

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001563765 CLINVAR
  RCV001563766 CLINVAR
dbSNP (RS) rs2147784410 CLINVAR
MedGen C1969443 CLINVAR
  C3711645 CLINVAR
NCBI Gene HADHA CLINVAR
OMIM 600890 CLINVAR
  609015 CLINVAR
  609016 CLINVAR
SNOMED CT 237999008 CLINVAR