RGD:156067119 Rat Genome Database

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Variant: RGD:156067119 -  Homo sapiens

RGD ID: 156067119
ClinVar ID: CV2236954
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DHX58  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 40,263,321
GRCh38 17 42,111,303
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_024119.3:c.363G>C
NC_000017.11:g.42111303C>G
NC_000017.10:g.40263321C>G
NM_024119.2:c.363G>C
More... 		10/27/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:DHX58
Accession:NM_024119
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 121
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELRSYQWEVIMPALEGKNIIIWLPTGAGKTRAAAYVAKRHLETVDGAKVVVLVNRVHLVTQHGEEFRRMLDGRWTVTTL
SGDMGPRAGFGHLARCHDLLICTAELLQMALTSPEEEEHVDLTVFSLIVVDECHHTHKDTVYNVIMSQYLELKLQRAQPL
PQVLGLTASPGTGGASKLDGAINHVLQLCANLDTWCIMSPQNCCPQLQEHSQQPCKQYNLCHRRSQDPFGDLLKKLMDQI
HDHLEMPELSRKFGTQMYEQQVVKLSEAAALAGLQEQRVYALHLRRYNDALLIHDTVRAVDALAALQDFYHREHVTKTQI
LCAERRLLALFDDRKNELAHLATHGPENPKLEMLEKILQRQFSSSNSPRGIIFTRTRQSAHSLLLWLQQQQGLQTVDIRA
QLLIGAGNSSQSTHMTQRDQQEVIQKFQDGTLNLLVATSVAEEGLDIPHCNVVVRYGLLTNEISMVQARGRARADQSVYA
FVATEGSRELKRELINEALETLMEQAVAAVQKMDQAEYQAKIRDLQQAALTKRAAQAAQRENQRQQFPVEHVQLLCINCM
VAVGHGSDLRKVEGTHHVNVNPNFSNYYNVSRDPVVINKVFKDWKPGGVISCRNCGEVWGLQMIYKSVKLPVLKVRSMLL
ETPQGRIQAKKWSRVPFSVPDFDFLQHCAENLSDLSLD*

Gene Symbol:DHX58
Accession:XM_047436724
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 121
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELRSYQWEVIMPALEGKNIIIWLPTGAGKTRAAAYVAKRHLETVDGAKVVVLVNRVHLVTQHGEEFRRMLDGRWTVTTL
SGDMGPRAGFGHLARCHDLLICTAELLQMALTSPEEEEHVDLTVFSLIVVDECHHTHKDTVYNVIMSQYLELKLQRAQPL
PQVLGLTASPGTGGASKLDGAINHVLQLCANLDTWCIMSPQNCCPQLQEHSQQPCKQYNLCHRRSQDPFGDLLKKLMDQI
HDHLEMPELSRKFGTQMYEQQVVKLSEAAALAGLQEQRVYALHLRRYNDALLIHDTVRAVDALAALQDFYHREHVTKTQI
LCAERRLLALFDDRKNELAHLATHGPENPKLEMLEKILQRQFSSSNSPRGIIFTRTRQSAHSLLLWLQQQQGLQTVDIRA
QLLIGAGNSSQSTHMTQRDQQEVIQKFQDGTLNLLVATSVAEEGLDIPHCNVVVRYGLLTNEISMVQARGRARADQSVYA
FVATEGSRELKRELINEALETLMEQAVAAVQKMDQAEYQAKIRDLQQAALTKRAAQAAQRENQRQQFPVEHVQLLCINCM
VAVGHGSDLRKVEGTHHVNVNPNFSNYYNVSRDPVVINKVFKDWKPGGVISCRNCGEVWGLQMIYKSVKLPVLKVRSMLL
ETPQGRIQAKKWSRVPFSVPDFDFLQHCAENLSDLSLD*

Gene Symbol:DHX58
Accession:XM_047436725
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 121
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELRSYQWEVIMPALEGKNIIIWLPTGAGKTRAAAYVAKRHLETVDGAKVVVLVNRVHLVTQHGEEFRRMLDGRWTVTTL
SGDMGPRAGFGHLARCHDLLICTAELLQMALTSPEEEEHVDLTVFSLIVVDECHHTHKDTVYNVIMSQYLELKLQRAQPL
PQVLGLTASPGTGGASKLDGAINHVLQLCANLDTWCIMSPQNCCPQLQEHSQQPCKQYNLCHRRSQDPFGDLLKKLMDQI
HDHLEMPELSRKFGTQMYEQQVVKLSEAAALAGLQEQRVYALHLRRYNDALLIHDTVRAVDALAALQDFYHREHVTKTQI
LCAERRLLALFDDRKNELAHLATHGPENPKLEMLEKILQRQFSSSNSPRGIIFTRTRQSAHSLLLWLQQQQGLQTVDIRA
QLLIGAGNSSQSTHMTQRDQQEVIQKFQDGTLNLLVATSVAEEGLDIPHCNVVVRYGLLTNEISMVQARGRARADQSVYA
FVATEGSRELKRELINEALETLMEQAVAAVQKMDQAEYQAKIRDLQQAALTKRAAQAAQRENQRQQFPVEHVQLLCINCM
VAVGHGSDLRKVEGTHHVNVNPNFSNYYNVSRDPVVINKVFKDWKPGGVISCRNCGEVWGLQMIYKSVKLPVLKVRSMLL
ETPQGRIQAKKWSRVPFSVPDFDFLQHCAENLSDLSLD*

Gene Symbol:DHX58
Accession:XM_047436726
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 121
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELRSYQWEVIMPALEGKNIIIWLPTGAGKTRAAAYVAKRHLETVDGAKVVVLVNRVHLVTQHGEEFRRMLDGRWTVTTL
SGDMGPRAGFGHLARCHDLLICTAELLQMALTSPEEEEHVDLTVFSLIVVDECHHTHKDTVYNVIMSQYLELKLQRAQPL
PQVLGLTASPGTGGASKLDGAINHVLQLCANLDTWCIMSPQNCCPQLQEHSQQPCKQYNLCHRRSQDPFGDLLKKLMDQI
HDHLEMPELSRKFGTQMYEQQVVKLSEAAALAGLQEQRVYALHLRRYNDALLIHDTVRAVDALAALQDFYHREHVTKTQI
LCAERRLLALFDDRKNELAHLATHGPENPKLEMLEKILQRQFSSSNSPRGIIFTRTRQSAHSLLLWLQQQQGLQTVDIRA
QLLIGAGNSSQSTHMTQRDQQEVIQKFQDGTLNLLVATSVAEEGLDIPHCNVVVRYGLLTNEISMVQARGRARADQSVYA
FVATEGSRELKRELINEALETLMEQAVAAVQKMDQAEYQAKELL*

Gene Symbol:DHX58
Accession:XM_047436727
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 121
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELRSYQWEVIMPALEGKNIIIWLPTGAGKTRAAAYVAKRHLETVDGAKVVVLVNRVHLVTQHGEEFRRMLDGRWTVTTL
SGDMGPRAGFGHLARCHDLLICTAELLQMALTSPEEEEHVDLTVFSLIVVDECHHTHKDTVYNVIMSQYLELKLQRAQPL
PQVLGLTASPGTGGASKLDGAINHVLQLCANLDTWCIMSPQNCCPQLQEHSQQPCKQYNLCHRRSQDPFGDLLKKLMDQI
HDHLEMPELSRKFGTQMYEQQVVKLSEAAALAGLQEQRVYALHLRRYNDALLIHDTVRAVDALAALQDFYHREHVTKTQI
LCAERRLLALFDEGPARSDPEVPRWNPEPSGGHECGGGGAGHPTLQCGGALWALDQ*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004112951 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene DHX58 CLINVAR
OMIM 608588 CLINVAR