RGD:11599190 Rat Genome Database

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Variant: RGD:11599190 -  Homo sapiens

RGD ID: 11599190
RS ID: rs667782
ClinVar ID: CV313120
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HYLS1  PUS3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 125,769,354
GRCh38 11 125,899,459
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_145014.2:c.91T>C
NG_011842.1:g.20846T>C
NC_000011.10:g.125899459T>C
NC_000011.9:g.125769354T>C
More... 		07/10/2021 intron variant|missense variant benign none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PUS3
Accession:NM_031307
Location:5UTRS;INTRON

Gene Symbol:PUS3
Accession:XM_005271688
Location:5UTRS;INTRON

Gene Symbol:PUS3
Accession:NM_001271985
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEELLPDGQIWANMDPEERMLAAATAFTHIGAGQGEGDVRREAQSIQYDPYSKASVAPGKRPALPVQLQYPHVESNVPSE
TVSEASQRLRKPVMKRKVLRRKPDGEVLVTDESIISESESGTENDQDLWDLRQRLMNVQFQEDKESSFDVSQKFNLPHEY
QGISQDQLICSLQREGMGSPAYEQDLIVASRPKSFILPKLDQLSRNRGKTDRVARYFEYKRDWDSIRLPGEDHRKELRWG
VREQMLCRAEPQSKPQHIYVPNNYLVPTEKKRSALRWGVRCDLANGVIPRKLPFPLSPS*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEELLPDGQIWANMDPEERMLAAATAFTHIGAGQGEGDVRREAQSIQYDPYSKASVAPGKRPALPVQLQYPHVESNVPSE
TVSEASQRLRKPVMKRKVLRRKPDGEVLVTDESIISESESGTENDQDLWDLRQRLMNVQFQEDKESSFDVSQKFNLPHEY
QGISQDQLICSLQREGMGSPAYEQDLIVASRPKSFILPKLDQLSRNRGKTDRVARYFEYKRDWDSIRLPGEDHRKELRWG
VREQMLCRAEPQSKPQHIYVPNNYLVPTEKKRSALRWGVRCDLANGVIPRKLPFPLSPS*

Gene Symbol:HYLS1
Accession:NM_001134793
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEELLPDGQIWANMDPEERMLAAATAFTHIGAGQGEGDVRREAQSIQYDPYSKASVAPGKRPALPVQLQYPHVESNVPSE
TVSEASQRLRKPVMKRKVLRRKPDGEVLVTDESIISESESGTENDQDLWDLRQRLMNVQFQEDKESSFDVSQKFNLPHEY
QGISQDQLICSLQREGMGSPAYEQDLIVASRPKSFILPKLDQLSRNRGKTDRVARYFEYKRDWDSIRLPGEDHRKELRWG
VREQMLCRAEPQSKPQHIYVPNNYLVPTEKKRSALRWGVRCDLANGVIPRKLPFPLSPS*

Gene Symbol:HYLS1
Accession:NM_001424364
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEELLPDGQIWANMDPEERMLAAATAFTHIGAGQGEGDVRREAQSIQYDPYSKASVAPGKRPALPVQLQYPHVESNVPSE
TVSEASQRLRKPVMKRKVLRRKPDGEVLVTDESIISESESGTENDQDLWDLRQRLMNVQFQEDKESSFDVSQKFNLPHEY
QGISQDQLICSLQREGMGSPAYEQDLIVASRPKSFILPKLDQLSRNRGKTDRVARYFEYKRDWDSIRLPGEDHRKELRWG
VREQMLCRAEPQSKPQHIYVPNNYLVPTEKKRSALRWGVRCDLANGVIPRKLPFPLSPS*

Gene Symbol:HYLS1
Accession:NM_001377269
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEELLPDGQIWANMDPEERMLAAATAFTHIGAGQGEGDVRREAQSIQYDPYSKASVAPGKRPALPVQLQYPHVESNVPSE
TVSEASQRLRKPVMKRKVLRRKPDGEVLVTDESIISESESGTENDQDLWDLRQRLMNVQFQEDKESSFDVSQKFNLPHEY
QGISQDQLICSLQREGMGSPAYEQDLIVASRPKSFILPKLDQLSRNRGKTDRVARYFEYKRDWDSIRLPGEDHRKELRWG
VREQMLCRAEPQSKPQHIYVPNNYLVPTEKKRSALRWGVRCDLANGVIPRKLPFPLSPS*

Gene Symbol:HYLS1
Accession:NM_001377270
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEELLPDGQIWANMDPEERMLAAATAFTHIGAGQGEGDVRREAQSIQYDPYSKASVAPGKRPALPVQLQYPHVESNVPSE
TVSEASQRLRKPVMKRKVLRRKPDGEVLVTDESIISESESGTENDQDLWDLRQRLMNVQFQEDKESSFDVSQKFNLPHEY
QGISQDQLICSLQREGMGSPAYEQDLIVASRPKSFILPKLDQLSRNRGKTDRVARYFEYKRDWDSIRLPGEDHRKELRWG
VREQMLCRAEPQSKPQHIYVPNNYLVPTEKKRSALRWGVRCDLANGVIPRKLPFPLSPS*

Gene Symbol:HYLS1
Accession:NM_145014
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEELLPDGQIWANMDPEERMLAAATAFTHIGAGQGEGDVRREAQSIQYDPYSKASVAPGKRPALPVQLQYPHVESNVPSE
TVSEASQRLRKPVMKRKVLRRKPDGEVLVTDESIISESESGTENDQDLWDLRQRLMNVQFQEDKESSFDVSQKFNLPHEY
QGISQDQLICSLQREGMGSPAYEQDLIVASRPKSFILPKLDQLSRNRGKTDRVARYFEYKRDWDSIRLPGEDHRKELRWG
VREQMLCRAEPQSKPQHIYVPNNYLVPTEKKRSALRWGVRCDLANGVIPRKLPFPLSPS*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEELLPDGQIWANMDPEERMLAAATAFTHIGAGQGEGDVRREAQSIQYDPYSKASVAPGKRPALPVQLQYPHVESNVPSE
TVSEASQRLRKPVMKRKVLRRKPDGEVLVTDESIISESESGTENDQDLWDLRQRLMNVQFQEDKESSFDVSQKFNLPHEY
QGISQDQLICSLQREGMGSPAYEQDLIVASRPKSFILPKLDQLSRNRGKTDRVARYFEYKRDWDSIRLPGEDHRKELRWG
VREQMLCRAEPQSKPQHIYVPNNYLVPTEKKRSALRWGVRCDLANGVIPRKLPFPLSPS*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEELLPDGQIWANMDPEERMLAAATAFTHIGAGQGEGDVRREAQSIQYDPYSKASVAPGKRPALPVQLQYPHVESNVPSE
TVSEASQRLRKPVMKRKVLRRKPDGEVLVTDESIISESESGTENDQDLWDLRQRLMNVQFQEDKESSFDVSQKFNLPHEY
QGISQDQLICSLQREGMGSPAYEQDLIVASRPKSFILPKLDQLSRNRGKTDRVARYFEYKRDWDSIRLPGEDHRKELRWG
VREQMLCRAEPQSKPQHIYVPNNYLVPTEKKRSALRWGVRCDLANGVIPRKLPFPLSPS*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000988763 CLINVAR
  RCV001518811 CLINVAR
  RCV001828312 CLINVAR
  RCV003977874 CLINVAR
dbSNP (RS) rs667782 CLINVAR
MedGen C1856016 CLINVAR
  C2931104 CLINVAR
  C3661900 CLINVAR
NCBI Gene HYLS1 CLINVAR
  PUS3 CLINVAR
OMIM 236680 CLINVAR
  610693 CLINVAR
  616283 CLINVAR