RGD:127253631 Rat Genome Database

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Variant: RGD:127253631 -  Homo sapiens

RGD ID: 127253631
RS ID: rs1669827760
ClinVar ID: CV1091132
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GAREM2  HADHA  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 26,424,165
GRCh38 2 26,201,296
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_747t1:c.1245A>G
NM_000182.5:c.1245A>G
LRG_747:g.48326A>G
NG_007121.2:g.48326A>G
More... 		03/24/2020 synonymous variant likely benign 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: K to N (nonsynonymous)
Amino Acid Position: 415
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVACRAIGILSRFSAFRILRSRGYICRNFTGSSALLTRTHINYGVKGDVAVVRINSPNSKVNTLSKELHSEFSEVMNEIW
ASDQIRSAVLISSKPGCFIAGADINMLAACKTLQEVTQLSQEAQRIVEKLEKSTKPIVAAINGSCLGGGLEVAISCQYRI
ATKDRKTVLGTPEVLLGALPGAGGTQRLPKMVGVPAALDMMLTGRSIRADRAKKMGLVDQLVEPLGPGLKPPEERTIEYL
EEVAITFAKGLADKKISPKRDKGLVEKLTAYAMTIPFVRQQVYKKVEEKVRKQTKGLYPAPLKIIDVVKTGIEQGSDAGY
LCESQKFGELVMTKESKALMGLYHGQVLCKKNKFGAPQKDVKHLAILGAGLMGAGIAQVSVDKGLKTILKDATLTALDRG
QQQVFKGLNDKVKKNALTSFERDSIFSNLTGQLDYQGFEKADMVIEAVFEDLSLKHRVLKEVEAVIPDHCIFASNTSALP
ISEIAAVSKRPEKVIGMHYFSPVDKMQLLEIITTEKTSKDTSASAVAVGLKQGKVIIVVKDGPGFYTTRCLAPMMSEVIR
ILQEGVDPKKLDSLTTSFGFPVGAATLVDEVGVDVAKHVAEDLGKVFGERFGGGNPELLTQMVSKGFLGRKSGKGFYIYQ
EGVKRKDLNSDMDSILASLKLPPKSEVSSDEDIQFRLVTRFVNEAVMCLQEGILATPAEGDIGAVFGLGFPPCLGGPFRF
VDLYGAQKIVDRLKKYEAAYGKQFTPCQLLADHANSPNKKFYQ*

Gene Symbol:GAREM2
Accession:NM_001168241
Location:INTRON

Gene Symbol:GAREM2
Accession:XM_011532567
Location:INTRON

Gene Symbol:GAREM2
Accession:NM_001191033
Location:INTRON

Gene Symbol:GAREM2
Accession:XM_011532565
Location:INTRON

Gene Symbol:GAREM2
Accession:XM_011532566
Location:INTRON

Gene Symbol:GAREM2
Accession:XM_011532564
Location:INTRON

Gene Symbol:GAREM2
Accession:XM_006711951
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001437043 CLINVAR
dbSNP (RS) rs1669827760 CLINVAR
MedGen C1969443 CLINVAR
NCBI Gene GAREM2 CLINVAR
  HADHA CLINVAR
OMIM 600890 CLINVAR
  609016 CLINVAR
  617999 CLINVAR
SNOMED CT 237999008 CLINVAR