RGD:405743563 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:405743563 -  Homo sapiens

RGD ID: 405743563
ClinVar ID: CV3257092
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FDXR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 72,860,655
GRCh38 17 74,864,533
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001258016.3:c.593C>T
NM_001258015.3:c.629C>T
NM_001258014.4:c.725C>T
NM_024417.5:c.749C>T
More...
12/14/2021 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FDXR
Accession:NM_001258015
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 210
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASRCWRWWGWSAWPRTRLPPAGSTPSFCHHFSTQEKTPQICVVGSGPAGFYTAQHLLKQHPQAHVDIYEKQPVPFGLVR
FGVAPDHPEVKSYGAEDHRALEIPGEELPGVCSARAFVGWYNGLPENQELEPDLSCDTAVILGQGNVALDVARILLTPPE
HLERTDITKAALGVLRQSRVKTVWLVGRRGPLQVAFTIKELREMIQLPGVRPILDPVDFLGLQDKIKEVPRPRKRLTELL
LRTATEKPGPAEAARQASASRAWGLRFFRSPQQVLPSPDGRRAAGVRLAVTRLEGVDEATRAVPTGDMEDLPCGLVLSSI
GYKSRPVDPSVPFDSKLGVIPNVEGRVMDVPGLYCSGWVKRGPTGVIATTMTDSFLTGQMLLQDLKAGLLPSGPRPGYAA
IQALLSSRGVRPVSFSDWEKLDAEEVARGQGTGKPREKLVDPQEMLRLLGH*

Gene Symbol:FDXR
Accession:NM_024417
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 250
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASRCWRWWGWSAWPRTRLPPAGSTPSFCHHFSTQEKTPQICVVGSGPAGFYTAQHLLKHPQAHVDIYEKQPVPFGLVRF
GVAPDHPEVKNVINTFTQTAHSGRCAFWGNVEVGRDVTVPELQEAYHAVVLSYGAEDHRALEIPGEELPGVCSARAFVGW
YNGLPENQELEPDLSCDTAVILGQGNVALDVARILLTPPEHLERTDITKAALGVLRQSRVKTVWLVGRRGPLQVAFTIKE
LREMIQLPGVRPILDPVDFLGLQDKIKEVPRPRKRLTELLLRTATEKPGPAEAARQASASRAWGLRFFRSPQQVLPSPDG
RRAAGVRLAVTRLEGVDEATRAVPTGDMEDLPCGLVLSSIGYKSRPVDPSVPFDSKLGVIPNVEGRVMDVPGLYCSGWVK
RGPTGVIATTMTDSFLTGQMLLQDLKAGLLPSGPRPGYAAIQALLSSRGVRPVSFSDWEKLDAEEVARGQGTGKPREKLV
DPQEMLRLLGH*

Gene Symbol:FDXR
Accession:NM_001258014
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 242
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASRCWRWWGWSAWPRTRLPPAGSTPSFCHHFSTQEKTPQICVVGSGPAGFYTAQHLLKHPQAHVDIYEKQPVPFGLVRF
GVAPDHPEVKTAHSGRCAFWGNVEVGRDVTVPELQEAYHAVVLSYGAEDHRALEIPGEELPGVCSARAFVGWYNGLPENQ
ELEPDLSCDTAVILGQGNVALDVARILLTPPEHLERTDITKAALGVLRQSRVKTVWLVGRRGPLQVAFTIKELREMIQLP
GVRPILDPVDFLGLQDKIKEVPRPRKRLTELLLRTATEKPGPAEAARQASASRAWGLRFFRSPQQVLPSPDGRRAAGVRL
AVTRLEGVDEATRAVPTGDMEDLPCGLVLSSIGYKSRPVDPSVPFDSKLGVIPNVEGRVMDVPGLYCSGWVKRGPTGVIA
TTMTDSFLTGQMLLQDLKAGLLPSGPRPGYAAIQALLSSRGVRPVSFSDWEKLDAEEVARGQGTGKPREKLVDPQEMLRL
LGH*

Gene Symbol:FDXR
Accession:NM_001258016
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 198
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDKDREHPQAHVDIYEKQPVPFGLVRFGVAPDHPEVKNVINTFTQTAHSGRCAFWGNVEVGRDVTVPELQEAYHAVVLS
YGAEDHRALEIPGEELPGVCSARAFVGWYNGLPENQELEPDLSCDTAVILGQGNVALDVARILLTPPEHLERTDITKAAL
GVLRQSRVKTVWLVGRRGPLQVAFTIKELREMIQLPGVRPILDPVDFLGLQDKIKEVPRPRKRLTELLLRTATEKPGPAE
AARQASASRAWGLRFFRSPQQVLPSPDGRRAAGVRLAVTRLEGVDEATRAVPTGDMEDLPCGLVLSSIGYKSRPVDPSVP
FDSKLGVIPNVEGRVMDVPGLYCSGWVKRGPTGVIATTMTDSFLTGQMLLQDLKAGLLPSGPRPGYAAIQALLSSRGVRP
VSFSDWEKLDAEEVARGQGTGKPREKLVDPQEMLRLLGH*

Gene Symbol:FDXR
Accession:NM_001258012
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 293
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASRCWRWWGWSAWPRTRLPPAGSTPSFCHHFSTQEKTPQICVVGSGPAGFYTAQHLLKRVEALCSQPRVLNSPALSGEG
EDLGASQPLSLGPTSCHPVPQQHPQAHVDIYEKQPVPFGLVRFGVAPDHPEVKNVINTFTQTAHSGRCAFWGNVEVGRDV
TVPELQEAYHAVVLSYGAEDHRALEIPGEELPGVCSARAFVGWYNGLPENQELEPDLSCDTAVILGQGNVALDVARILLT
PPEHLERTDITKAALGVLRQSRVKTVWLVGRRGPLQVAFTIKELREMIQLPGVRPILDPVDFLGLQDKIKEVPRPRKRLT
ELLLRTATEKPGPAEAARQASASRAWGLRFFRSPQQVLPSPDGRRAAGVRLAVTRLEGVDEATRAVPTGDMEDLPCGLVL
SSIGYKSRPVDPSVPFDSKLGVIPNVEGRVMDVPGLYCSGWVKRGPTGVIATTMTDSFLTGQMLLQDLKAGLLPSGPRPG
YAAIQALLSSRGVRPVSFSDWEKLDAEEVARGQGTGKPREKLVDPQEMLRLLGH*

Gene Symbol:FDXR
Accession:NM_004110
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 256
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASRCWRWWGWSAWPRTRLPPAGSTPSFCHHFSTQEKTPQICVVGSGPAGFYTAQHLLKHPQAHVDIYEKQPVPFGLVRF
GVAPDHPEVKNVINTFTQTAHSGRCAFWGNVEVGRDVTVPELQEAYHAVVLSYGAEDHRALEIPGEELPGVCSARAFVGW
YNGLPENQELEPDLSCDTAVILGQGNVALDVARILLTPPEHLEALLLCQRTDITKAALGVLRQSRVKTVWLVGRRGPLQV
AFTIKELREMIQLPGVRPILDPVDFLGLQDKIKEVPRPRKRLTELLLRTATEKPGPAEAARQASASRAWGLRFFRSPQQV
LPSPDGRRAAGVRLAVTRLEGVDEATRAVPTGDMEDLPCGLVLSSIGYKSRPVDPSVPFDSKLGVIPNVEGRVMDVPGLY
CSGWVKRGPTGVIATTMTDSFLTGQMLLQDLKAGLLPSGPRPGYAAIQALLSSRGVRPVSFSDWEKLDAEEVARGQGTGK
PREKLVDPQEMLRLLGH*

Gene Symbol:FDXR
Accession:NM_001258013
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 281
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASRCWRWWGWSAWPRTRLPPAGSTPTFGGSDEVRDPANAKALRNKRRRMQVRVKLGKFQLLLDIQEKTPQICVVGSGPA
GFYTAQHLLKHPQAHVDIYEKQPVPFGLVRFGVAPDHPEVKNVINTFTQTAHSGRCAFWGNVEVGRDVTVPELQEAYHAV
VLSYGAEDHRALEIPGEELPGVCSARAFVGWYNGLPENQELEPDLSCDTAVILGQGNVALDVARILLTPPEHLERTDITK
AALGVLRQSRVKTVWLVGRRGPLQVAFTIKELREMIQLPGVRPILDPVDFLGLQDKIKEVPRPRKRLTELLLRTATEKPG
PAEAARQASASRAWGLRFFRSPQQVLPSPDGRRAAGVRLAVTRLEGVDEATRAVPTGDMEDLPCGLVLSSIGYKSRPVDP
SVPFDSKLGVIPNVEGRVMDVPGLYCSGWVKRGPTGVIATTMTDSFLTGQMLLQDLKAGLLPSGPRPGYAAIQALLSSRG
VRPVSFSDWEKLDAEEVARGQGTGKPREKLVDPQEMLRLLGH*

Gene Symbol:FDXR
Accession:NR_047576
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004391709 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene FDXR CLINVAR
OMIM 103270 CLINVAR