RGD:14736477 Rat Genome Database

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Variant: RGD:14736477 -  Homo sapiens

RGD ID: 14736477
RS ID: rs141769037
ClinVar ID: CV626728
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HMGCS2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 120,295,908
GRCh38 1 119,753,285
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005518.3:c.1289C>T
NM_005518.4:c.1289C>T
NP_005509.1:p.Ala430Val
LRG_447t2:c.1163C>T
More... 		10/11/2018 missense variant uncertain significance 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: A to V (nonsynonymous)
Amino Acid Position: 388
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRLLTPVKRILQLTRAVQETSLTPARLLPVAHQRFSTASAVPLAKTDTWPKDVGILALEVYFPAQYVDQTDLEKYNNVE
AGKYTVGLGQTRMGFCSVQEDINSLCLTVVQRLMERIQLPWDSVGRLEVGTETIIDKSKAVKTVLMELFQDSGNTDIEGI
DTTNACYGGTASLFNAANWMESSSWDGLRGTHMENVYDFYKPNLASEYPIVDGKLSIQCYLRALDRCYTSYRKKIQNQWK
QAGSDRPFTLDDLQYMIFHTPFCKMVQKSLARLMFNDFLSASSDTQTSLYKGLEAFGGLKLEDTYTNKDLDKALLKASQD
MFDKKTKASLYLSTHNGNMYTSSLYGCLASLLSHHSAQELAGSRIGAFSYGSGLAASFFSFRVSQDAVPGSPLDKLVSST
SDLPKRLASRKCVSPEEFTEIMNQREQFYHKVNFSPPGDTNSLFPGTWYLERVDEQHRRKYARRPV*

Gene Symbol:HMGCS2
Accession:NM_005518
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 430
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRLLTPVKRILQLTRAVQETSLTPARLLPVAHQRFSTASAVPLAKTDTWPKDVGILALEVYFPAQYVDQTDLEKYNNVE
AGKYTVGLGQTRMGFCSVQEDINSLCLTVVQRLMERIQLPWDSVGRLEVGTETIIDKSKAVKTVLMELFQDSGNTDIEGI
DTTNACYGGTASLFNAANWMESSSWDGRYAMVVCGDIAVYPSGNARPTGGAGAVAMLIGPKAPLALERGLRGTHMENVYD
FYKPNLASEYPIVDGKLSIQCYLRALDRCYTSYRKKIQNQWKQAGSDRPFTLDDLQYMIFHTPFCKMVQKSLARLMFNDF
LSASSDTQTSLYKGLEAFGGLKLEDTYTNKDLDKALLKASQDMFDKKTKASLYLSTHNGNMYTSSLYGCLASLLSHHSAQ
ELAGSRIGAFSYGSGLAASFFSFRVSQDAVPGSPLDKLVSSTSDLPKRLASRKCVSPEEFTEIMNQREQFYHKVNFSPPG
DTNSLFPGTWYLERVDEQHRRKYARRPV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000820039 CLINVAR
dbSNP (RS) rs141769037 CLINVAR
MedGen C2751532 CLINVAR
NCBI Gene HMGCS2 CLINVAR
OMIM 600234 CLINVAR
  605911 CLINVAR