RGD:13791740 Rat Genome Database

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Variant: RGD:13791740 -  Homo sapiens

RGD ID: 13791740
RS ID: rs142120825
ClinVar ID: CV542055
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GAREM2  HADHA  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 26,414,191
GRCh38 2 26,191,322
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007121.1:g.58299T>A
NC_000002.12:g.26191322A>T
NC_000002.11:g.26414191A>T
NP_000173.2:p.Tyr740Ter
More... 		06/21/2017 nonsense likely pathogenic 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: Y to Y (synonymous)
Amino Acid Position: 740
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVACRAIGILSRFSAFRILRSRGYICRNFTGSSALLTRTHINYGVKGDVAVVRINSPNSKVNTLSKELHSEFSEVMNEIW
ASDQIRSAVLISSKPGCFIAGADINMLAACKTLQEVTQLSQEAQRIVEKLEKSTKPIVAAINGSCLGGGLEVAISCQYRI
ATKDRKTVLGTPEVLLGALPGAGGTQRLPKMVGVPAALDMMLTGRSIRADRAKKMGLVDQLVEPLGPGLKPPEERTIEYL
EEVAITFAKGLADKKISPKRDKGLVEKLTAYAMTIPFVRQQVYKKVEEKVRKQTKGLYPAPLKIIDVVKTGIEQGSDAGY
LCESQKFGELVMTKESKALMGLYHGQVLCKKNKFGAPQKDVKHLAILGAGLMGAGIAQVSVDKGLKTILKDATLTALDRG
QQQVFKGLNDKVKKKALTSFERDSIFSNLTGQLDYQGFEKADMVIEAVFEDLSLKHRVLKEVEAVIPDHCIFASNTSALP
ISEIAAVSKRPEKVIGMHYFSPVDKMQLLEIITTEKTSKDTSASAVAVGLKQGKVIIVVKDGPGFYTTRCLAPMMSEVIR
ILQEGVDPKKLDSLTTSFGFPVGAATLVDEVGVDVAKHVAEDLGKVFGERFGGGNPELLTQMVSKGFLGRKSGKGFYIYQ
EGVKRKDLNSDMDSILASLKLPPKSEVSSDEDIQFRLVTRFVNEAVMCLQEGILATPAEGDIGAVFGLGFPPCLGGPFRF
VDLYGAQKIVDRLKKYEAAYGKQFTPCQLLADHANSPNKKFYQ*

Gene Symbol:GAREM2
Accession:NM_001168241
Location:INTRON

Gene Symbol:GAREM2
Accession:XM_011532564
Location:INTRON

Gene Symbol:GAREM2
Accession:XM_011532566
Location:INTRON

Gene Symbol:GAREM2
Accession:NM_001191033
Location:INTRON

Gene Symbol:GAREM2
Accession:XM_011532565
Location:INTRON

Gene Symbol:GAREM2
Accession:XM_006711951
Location:INTRON

Gene Symbol:GAREM2
Accession:XM_011532567
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000667840 CLINVAR
dbSNP (RS) rs142120825 CLINVAR
MedGen C3711645 CLINVAR
NCBI Gene GAREM2 CLINVAR
  HADHA CLINVAR
OMIM 600890 CLINVAR
  609016 CLINVAR
  617999 CLINVAR