RGD:156200164 Rat Genome Database

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Variant: RGD:156200164 -  Homo sapiens

RGD ID: 156200164
ClinVar ID: CV2392354
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DHX58  LOC127886889  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 40,257,121
GRCh38 17 42,105,103
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.1316G>A
NG_136577.1:g.801C>T
NC_000017.11:g.42105103C>T
NC_000017.10:g.40257121C>T
More... 		03/23/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:DHX58
Accession:NM_024119
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 439
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELRSYQWEVIMPALEGKNIIIWLPTGAGKTRAAAYVAKRHLETVDGAKVVVLVNRVHLVTQHGEEFRRMLDGRWTVTTL
SGDMGPRAGFGHLARCHDLLICTAELLQMALTSPEEEEHVELTVFSLIVVDECHHTHKDTVYNVIMSQYLELKLQRAQPL
PQVLGLTASPGTGGASKLDGAINHVLQLCANLDTWCIMSPQNCCPQLQEHSQQPCKQYNLCHRRSQDPFGDLLKKLMDQI
HDHLEMPELSRKFGTQMYEQQVVKLSEAAALAGLQEQRVYALHLRRYNDALLIHDTVRAVDALAALQDFYHREHVTKTQI
LCAERRLLALFDDRKNELAHLATHGPENPKLEMLEKILQRQFSSSNSPRGIIFTRTRQSAHSLLLWLQQQQGLQTVDIRA
QLLIGAGNSSQSTHMTQRDQQEVIQKFQDGTLNLLVATNVAEEGLDIPHCNVVVRYGLLTNEISMVQARGRARADQSVYA
FVATEGSRELKRELINEALETLMEQAVAAVQKMDQAEYQAKIRDLQQAALTKRAAQAAQRENQRQQFPVEHVQLLCINCM
VAVGHGSDLRKVEGTHHVNVNPNFSNYYNVSRDPVVINKVFKDWKPGGVISCRNCGEVWGLQMIYKSVKLPVLKVRSMLL
ETPQGRIQAKKWSRVPFSVPDFDFLQHCAENLSDLSLD*

Gene Symbol:DHX58
Accession:XM_047436724
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 439
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELRSYQWEVIMPALEGKNIIIWLPTGAGKTRAAAYVAKRHLETVDGAKVVVLVNRVHLVTQHGEEFRRMLDGRWTVTTL
SGDMGPRAGFGHLARCHDLLICTAELLQMALTSPEEEEHVELTVFSLIVVDECHHTHKDTVYNVIMSQYLELKLQRAQPL
PQVLGLTASPGTGGASKLDGAINHVLQLCANLDTWCIMSPQNCCPQLQEHSQQPCKQYNLCHRRSQDPFGDLLKKLMDQI
HDHLEMPELSRKFGTQMYEQQVVKLSEAAALAGLQEQRVYALHLRRYNDALLIHDTVRAVDALAALQDFYHREHVTKTQI
LCAERRLLALFDDRKNELAHLATHGPENPKLEMLEKILQRQFSSSNSPRGIIFTRTRQSAHSLLLWLQQQQGLQTVDIRA
QLLIGAGNSSQSTHMTQRDQQEVIQKFQDGTLNLLVATNVAEEGLDIPHCNVVVRYGLLTNEISMVQARGRARADQSVYA
FVATEGSRELKRELINEALETLMEQAVAAVQKMDQAEYQAKIRDLQQAALTKRAAQAAQRENQRQQFPVEHVQLLCINCM
VAVGHGSDLRKVEGTHHVNVNPNFSNYYNVSRDPVVINKVFKDWKPGGVISCRNCGEVWGLQMIYKSVKLPVLKVRSMLL
ETPQGRIQAKKWSRVPFSVPDFDFLQHCAENLSDLSLD*

Gene Symbol:DHX58
Accession:XM_047436725
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 439
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELRSYQWEVIMPALEGKNIIIWLPTGAGKTRAAAYVAKRHLETVDGAKVVVLVNRVHLVTQHGEEFRRMLDGRWTVTTL
SGDMGPRAGFGHLARCHDLLICTAELLQMALTSPEEEEHVELTVFSLIVVDECHHTHKDTVYNVIMSQYLELKLQRAQPL
PQVLGLTASPGTGGASKLDGAINHVLQLCANLDTWCIMSPQNCCPQLQEHSQQPCKQYNLCHRRSQDPFGDLLKKLMDQI
HDHLEMPELSRKFGTQMYEQQVVKLSEAAALAGLQEQRVYALHLRRYNDALLIHDTVRAVDALAALQDFYHREHVTKTQI
LCAERRLLALFDDRKNELAHLATHGPENPKLEMLEKILQRQFSSSNSPRGIIFTRTRQSAHSLLLWLQQQQGLQTVDIRA
QLLIGAGNSSQSTHMTQRDQQEVIQKFQDGTLNLLVATNVAEEGLDIPHCNVVVRYGLLTNEISMVQARGRARADQSVYA
FVATEGSRELKRELINEALETLMEQAVAAVQKMDQAEYQAKIRDLQQAALTKRAAQAAQRENQRQQFPVEHVQLLCINCM
VAVGHGSDLRKVEGTHHVNVNPNFSNYYNVSRDPVVINKVFKDWKPGGVISCRNCGEVWGLQMIYKSVKLPVLKVRSMLL
ETPQGRIQAKKWSRVPFSVPDFDFLQHCAENLSDLSLD*

Gene Symbol:DHX58
Accession:XM_047436726
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 439
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELRSYQWEVIMPALEGKNIIIWLPTGAGKTRAAAYVAKRHLETVDGAKVVVLVNRVHLVTQHGEEFRRMLDGRWTVTTL
SGDMGPRAGFGHLARCHDLLICTAELLQMALTSPEEEEHVELTVFSLIVVDECHHTHKDTVYNVIMSQYLELKLQRAQPL
PQVLGLTASPGTGGASKLDGAINHVLQLCANLDTWCIMSPQNCCPQLQEHSQQPCKQYNLCHRRSQDPFGDLLKKLMDQI
HDHLEMPELSRKFGTQMYEQQVVKLSEAAALAGLQEQRVYALHLRRYNDALLIHDTVRAVDALAALQDFYHREHVTKTQI
LCAERRLLALFDDRKNELAHLATHGPENPKLEMLEKILQRQFSSSNSPRGIIFTRTRQSAHSLLLWLQQQQGLQTVDIRA
QLLIGAGNSSQSTHMTQRDQQEVIQKFQDGTLNLLVATNVAEEGLDIPHCNVVVRYGLLTNEISMVQARGRARADQSVYA
FVATEGSRELKRELINEALETLMEQAVAAVQKMDQAEYQAKELL*

Gene Symbol:DHX58
Accession:XM_047436727
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 354
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELRSYQWEVIMPALEGKNIIIWLPTGAGKTRAAAYVAKRHLETVDGAKVVVLVNRVHLVTQHGEEFRRMLDGRWTVTTL
SGDMGPRAGFGHLARCHDLLICTAELLQMALTSPEEEEHVELTVFSLIVVDECHHTHKDTVYNVIMSQYLELKLQRAQPL
PQVLGLTASPGTGGASKLDGAINHVLQLCANLDTWCIMSPQNCCPQLQEHSQQPCKQYNLCHRRSQDPFGDLLKKLMDQI
HDHLEMPELSRKFGTQMYEQQVVKLSEAAALAGLQEQRVYALHLRRYNDALLIHDTVRAVDALAALQDFYHREHVTKTQI
LCAERRLLALFDEGPARSDPEVPRWNPEPSGGHECGGGGAGHPTLQCGGALWALDQ*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004243948 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene DHX58 CLINVAR
OMIM 608588 CLINVAR