RGD:10056242 Rat Genome Database

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Variant: RGD:10056242 -  Homo sapiens

RGD ID: 10056242
RS ID: rs144744634
ClinVar ID: CV199942
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HMGCS2  LOC122094910  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 120,311,395
GRCh38 1 119,768,772
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_447t2:c.73C>G
NM_001166107.1:c.73C>G
LRG_447:g.5161C>G
NG_013348.1:g.5161C>G
More... 		11/21/2017 missense variant likely benign|uncertain significance AllHighlyPenetrant; HMG-CoA synthase-2 deficiency; HMGCS2 DEFICIENCY; mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency; MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HMGCS2
Accession:NM_001166107
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRLLTPVKRILQLTRAVQETSLTAARLLPVAHQRFSTASAVPLAKTDTWPKDVGILALEVYFPAQYVDQTDLEKYNNVE
AGKYTVGLGQTRMGFCSVQEDINSLCLTVVQRLMERIQLPWDSVGRLEVGTETIIDKSKAVKTVLMELFQDSGNTDIEGI
DTTNACYGGTASLFNAANWMESSSWDGLRGTHMENVYDFYKPNLASEYPIVDGKLSIQCYLRALDRCYTSYRKKIQNQWK
QAGSDRPFTLDDLQYMIFHTPFCKMVQKSLARLMFNDFLSASSDTQTSLYKGLEAFGGLKLEDTYTNKDLDKALLKASQD
MFDKKTKASLYLSTHNGNMYTSSLYGCLASLLSHHSAQELAGSRIGAFSYGSGLAASFFSFRVSQDAAPGSPLDKLVSST
SDLPKRLASRKCVSPEEFTEIMNQREQFYHKVNFSPPGDTNSLFPGTWYLERVDEQHRRKYARRPV*

Gene Symbol:HMGCS2
Accession:NM_005518
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRLLTPVKRILQLTRAVQETSLTAARLLPVAHQRFSTASAVPLAKTDTWPKDVGILALEVYFPAQYVDQTDLEKYNNVE
AGKYTVGLGQTRMGFCSVQEDINSLCLTVVQRLMERIQLPWDSVGRLEVGTETIIDKSKAVKTVLMELFQDSGNTDIEGI
DTTNACYGGTASLFNAANWMESSSWDGRYAMVVCGDIAVYPSGNARPTGGAGAVAMLIGPKAPLALERGLRGTHMENVYD
FYKPNLASEYPIVDGKLSIQCYLRALDRCYTSYRKKIQNQWKQAGSDRPFTLDDLQYMIFHTPFCKMVQKSLARLMFNDF
LSASSDTQTSLYKGLEAFGGLKLEDTYTNKDLDKALLKASQDMFDKKTKASLYLSTHNGNMYTSSLYGCLASLLSHHSAQ
ELAGSRIGAFSYGSGLAASFFSFRVSQDAAPGSPLDKLVSSTSDLPKRLASRKCVSPEEFTEIMNQREQFYHKVNFSPPG
DTNSLFPGTWYLERVDEQHRRKYARRPV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000185971 CLINVAR
  RCV000647361 CLINVAR
dbSNP (RS) rs144744634 CLINVAR
MedGen C2751532 CLINVAR
  CN169374 CLINVAR
NCBI Gene HMGCS2 CLINVAR
  LOC122094910 CLINVAR
OMIM 600234 CLINVAR
  605911 CLINVAR