rs2145984813 Rat Genome Database

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Variant: rs2145984813 -  Homo sapiens

RGD ID: 152036727
RS ID: rs2145984813
ClinVar ID: CV1605394
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ETHE1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 44,015,671
GRCh38 19 43,511,519
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001320869.2:c.129C>G
NM_001320867.2:c.390C>G
NM_014297.5:c.423C>G
NM_001320868.2:c.54C>G
More...
02/21/2021 synonymous variant likely benign Encephalopathy, petechiae, and ethylmalonic aciduria; EPEMA syndrome; Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1605394Humanethylmalonic encephalopathy  IAGP 8554872ClinVar Annotator: match by term: Ethylmalonic encephalopathyClinVarPMID:28492532


Gene Symbol:ETHE1
Accession:NM_014297
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 141
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEAVLRVARRQLSQRGGSGAPILLRQMFEPVSCTFTYLLGDRESREAVLIDPVLETAPRDAQLIKELGLRLLYAVNTHC
HADHITGSGLLRSLLPGCQSVISRLSGAQADLHIEDGDSIRFGRFALETRASPGHTPGCVTFVLNDHSMAFTGDALLIRG
CGRTDFQQGCAKTLYHSVHEKIFTLPGDCLIYPAHDYHGFTVSTVEEERTLNPRLTLSCEEFVKIMGNLNLPKPQQIDFA
VPANMRCGVQTPTA*

Gene Symbol:ETHE1
Accession:XM_005258687
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 114
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFEPVSCTFTYLLGDRESREAVLIDPVLETAPRDAQLIKELGLRLLYAVNTHCHADHITGSGLLRSLLPGCQSVISRLSG
AQADLHIEDGDSIRFGRFALETRASPGHTPGCVTFVLNDHSMAFTGDALLIRGCGRTDFQQGCAKTLYHSVHEKIFTLPG
DCLIYPAHDYHGFTVSTVEEERTLNPRLTLSCEEFVKIMGNLNLPKPQQIDFAVPANMRCGVQTPTA*

Gene Symbol:ETHE1
Accession:NM_001320869
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEAVLRVARRQLSQRGGSGAPILLRQALETRASPGHTPGCVTFVLNDHSMAFTGDALLIRGCGRTDFQQGCAKTLYHSV
HEKIFTLPGDCLIYPAHDYHGFTVSTVEEERTLNPRLTLSCEEFVKIMGNLNLPKPQQIDFAVPANMRCGVQTPTA*

Gene Symbol:ETHE1
Accession:NM_001320868
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLALETRASPGHTPGCVTFVLNDHSMAFTGDALLIRGCGRTDFQQGCAKTLYHSVHEKIFTLPGDCLIYPAHDYHGFTVS
TVEEERTLNPRLTLSCEEFVKIMGNLNLPKPQQIDFAVPANMRCGVQTPTA*

Gene Symbol:ETHE1
Accession:NM_001320867
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 130
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEAVLRVARRQLSQRGGSGAPILLRQMFEPVSCTFTYLLGDRESREAVLIDPVLETAPRDAQLIKELGLRLLYAGSGLL
RSLLPGCQSVISRLSGAQADLHIEDGDSIRFGRFALETRASPGHTPGCVTFVLNDHSMAFTGDALLIRGCGRTDFQQGCA
KTLYHSVHEKIFTLPGDCLIYPAHDYHGFTVSTVEEERTLNPRLTLSCEEFVKIMGNLNLPKPQQIDFAVPANMRCGVQT
PTA*

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV002087333 CLINVAR
dbSNP (RS) rs2145984813 CLINVAR
MedGen C1865349 CLINVAR
NCBI Gene ETHE1 CLINVAR
OMIM 602473 CLINVAR
  608451 CLINVAR