RGD:42724415 Rat Genome Database

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Variant: RGD:42724415 -  Homo sapiens

RGD ID: 42724415
RS ID: rs2063984022
ClinVar ID: CV984036
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OTUD5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 48,801,541
GRCh38 X 48,944,280
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_060072.1:p.Glu200Lys
NP_001129630.1:p.Glu200Lys
NM_001136157.2:c.598G>A
NM_001136158.2:c.598G>A
More...
02/09/2021 5 prime utr variant pathogenic LINKED SYNDROME
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:OTUD5
Accession:NM_001136159
Location:5UTRS;EXON

Gene Symbol:OTUD5
Accession:XM_005278042
Location:5UTRS;EXON

Gene Symbol:OTUD5
Accession:XM_017029630
Location:5UTRS;EXON

Gene Symbol:OTUD5
Accession:XM_024452396
Location:5UTRS;EXON

Gene Symbol:OTUD5
Accession:XM_024452397
Location:5UTRS;EXON

Gene Symbol:OTUD5
Accession:XM_047442248
Location:5UTRS;EXON

Gene Symbol:OTUD5
Accession:NM_001136157
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 200
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTILPKKKPPPPDADPANEPPPPGPMPPAPRRGGGVGVGGGGTGVGGGDRDRDSGVVGARPRASPPPQGPLPGPPGALHR
WALAVPPGAVAGPRPQQASPPPCGGPGGPGGGPGDALGAAAAGVGAAGVVVGVGGAVGVGGCCSGPGHSKRRRQAPGVGA
VGGGSPEREEVGAGYNSEDEYEAAAARIEAMDPATVEQQKHWFEKALRDKKGFIIKQMKEDGACLFRAVADQVYGDQDMH
EVVRKHCMDYLMKNADYFSNYVTEDFTTYINRKRKNNCHGNHIEMQAMAEMYNRPVEVYQYSTEPINTFHGIHQNEDEPI
RVSYHRNIHYNSVVNPNKATIGVGLGLPSFKPGFAEQSLMKNAIKTSEESWIEQQMLEDKKRATDWEATNEAIEEQVARE
SYLQWLRDQEKQARQVRGPSQPRKASATCSSATAAASSGLEEWTSRSPRQRSSASSPEHPELHAELGMKPPSPGTVLALA
KPPSPCAPGTSSQFSAGADRATSPLVSLYPALECRALIQQMSPSAFGLNDWDDDEILASVLAVSQQEYLDSMKKNKVHRD
PPPDKS*

Gene Symbol:OTUD5
Accession:NM_001136158
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 200
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTILPKKKPPPPDADPANEPPPPGPMPPAPRRGGGVGVGGGGTGVGGGDRDRDSGVVGARPRASPPPQGPLPGPPGALHR
WALAVPPGAVAGPRPQQASPPPCGGPGGPGGGPGDALGAAAAGVGAAGVVVGVGGAVGVGGCCSGPGHSKRRRQAPGVGA
VGGGSPEREEVGAGYNSEDEYEAAAARIEAMDPATVEQQKHWFEKALRDKKGFIIKQMKEDGACLFRAVADQVYGDQDMH
EVVRKHCMDYLMKNADYFSNYVTEDFTTYINRKRKNNCHGNHIEMQAMAEMYNRPVEVYQYSTEPINTFHGIHQNEDEPI
RVSYHRNIHYNSVVNPNKATIGVGLGLPSFKPGFAEQSLMKNAIKTSEESWIEQQMLEDKKRATDWEATNEAIEEQVARE
SYLQWLRDQEKQARQVRGPSQPRKASATCSSATAAASSGLEEWTSRSPRQRSSASSPEHPELHAELGMKPPSPGTVLALA
KPPSPCAPGTSSQFSAGADRATSPLVSLYPALECRALIQQMSPSAFGLNDWDDDEILASVLAVSQQEYLDSMKKNKVHRD
PPPDKS*

Gene Symbol:OTUD5
Accession:NM_017602
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 200
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTILPKKKPPPPDADPANEPPPPGPMPPAPRRGGGVGVGGGGTGVGGGDRDRDSGVVGARPRASPPPQGPLPGPPGALHR
WALAVPPGAVAGPRPQQASPPPCGGPGGPGGGPGDALGAAAAGVGAAGVVVGVGGAVGVGGCCSGPGHSKRRRQAPGVGA
VGGGSPEREEVGAGYNSEDEYEAAAARIEAMDPATVEQQKHWFEKALRDKKGFIIKQMKEDGACLFRAVADQVYGDQDMH
EVVRKHCMDYLMKNADYFSNYVTEDFTTYINRKRKNNCHGNHIEMQAMAEMYNRPVEVYQYSTGTSAVEPINTFHGIHQN
EDEPIRVSYHRNIHYNSVVNPNKATIGVGLGLPSFKPGFAEQSLMKNAIKTSEESWIEQQMLEDKKRATDWEATNEAIEE
QVARESYLQWLRDQEKQARQVRGPSQPRKASATCSSATAAASSGLEEWTSRSPRQRSSASSPEHPELHAELGMKPPSPGT
VLALAKPPSPCAPGTSSQFSAGADRATSPLVSLYPALECRALIQQMSPSAFGLNDWDDDEILASVLAVSQQEYLDSMKKN
KVHRDPPPDKS*

Gene Symbol:OTUD5
Accession:XM_005272622
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 200
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTILPKKKPPPPDADPANEPPPPGPMPPAPRRGGGVGVGGGGTGVGGGDRDRDSGVVGARPRASPPPQGPLPGPPGALHR
WALAVPPGAVAGPRPQQASPPPCGGPGGPGGGPGDALGAAAAGVGAAGVVVGVGGAVGVGGCCSGPGHSKRRRQAPGVGA
VGGGSPEREEVGAGYNSEDEYEAAAARIEAMDPATVEQQKHWFEKALRDKKGFIIKQMKEDGACLFRAVADQVYGDQDMH
EVVRKHCMDYLMKNADYFSNYVTEDFTTYINRKRKNNCHGNHIEMQAMAEMYNRPVEVYQYSTEPINTFHGIHQNEDEPI
RVSYHRNIHYNSVVNPNKATIGVGLGLPSFKPGFAEQSLMKNAIKTSEESWIEQQMLEDKKRATDWEATNEAIEEQVARE
SYLQWLRDQEKQARQVRGPSQPRKASATCSSATAAASSGLEEWTSRSPRQRSSASSPEHPELHAELGMKPPSPGTVLALA
KPPSPCAPGTSSQFSAGADRATSPLVSLYPALECRALIQQMSPSAFAGLNDWDDDEILASVLAVSQQEYLDSMKKNKVHR
DPPPDKS*

Gene Symbol:OTUD5
Accession:XM_006724537
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 200
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTILPKKKPPPPDADPANEPPPPGPMPPAPRRGGGVGVGGGGTGVGGGDRDRDSGVVGARPRASPPPQGPLPGPPGALHR
WALAVPPGAVAGPRPQQASPPPCGGPGGPGGGPGDALGAAAAGVGAAGVVVGVGGAVGVGGCCSGPGHSKRRRQAPGVGA
VGGGSPEREEVGAGYNSEDEYEAAAARIEAMDPATVEQQKHWFEKALRDKKGFIIKQMKEDGACLFRAVADQVYGDQDMH
EVVRKHCMDYLMKNADYFSNYVTEDFTTYINRKRKNNCHGNHIEMQAMAEMYNRPVEVYQYSTGTSAVEPINTFHGIHQN
EDEPIRVSYHRNIHYNSVVNPNKATIGVGLGLPSFKPGFAEQSLMKNAIKTSEESWIEQQMLEDKKRATDWEATNEAIEE
QVARESYLQWLRDQEKQARQVRGPSQPRKASATCSSATAAASSGLEEWTSRSPRQRSSASSPEHPELHAELGMKPPSPGT
VLALAKPPSPCAPGTSSQFSAGADRATSPLVSLYPALECRALIQQMSPSAFGLNDWDDDEILASVLAVSQQEYLDSMKKN
KVHRDPPPDKS*

Gene Symbol:OTUD5
Accession:XM_005278039
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 200
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTILPKKKPPPPDADPANEPPPPGPMPPAPRRGGGVGVGGGGTGVGGGDRDRDSGVVGARPRASPPPQGPLPGPPGALHR
WALAVPPGAVAGPRPQQASPPPCGGPGGPGGGPGDALGAAAAGVGAAGVVVGVGGAVGVGGCCSGPGHSKRRRQAPGVGA
VGGGSPEREEVGAGYNSEDEYEAAAARIEAMDPATVEQQKHWFEKALRDKKGFIIKQMKEDGACLFRAVADQVYGDQDMH
EVVRKHCMDYLMKNADYFSNYVTEDFTTYINRKRKNNCHGNHIEMQAMAEMYNRPVEVYQYSTGTSAVEPINTFHGIHQN
EDEPIRVSYHRNIHYNSVVNPNKATIGVGLGLPSFKPGFAEQSLMKNAIKTSEESWIEQQMLEDKKRATDWEATNEAIEE
QVARESYLQWLRDQEKQARQVRGPSQPRKASATCSSATAAASSGLEEWTSRSPRQRSSASSPEHPELHAELGMKPPSPGT
VLALAKPPSPCAPGTSSQFSAGADRATSPLVSLYPALECRALIQQMSPSAFAGLNDWDDDEILASVLAVSQQEYLDSMKK
NKVHRDPPPDKS*

Gene Symbol:OTUD5
Accession:XM_011543932
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 200
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTILPKKKPPPPDADPANEPPPPGPMPPAPRRGGGVGVGGGGTGVGGGDRDRDSGVVGARPRASPPPQGPLPGPPGALHR
WALAVPPGAVAGPRPQQASPPPCGGPGGPGGGPGDALGAAAAGVGAAGVVVGVGGAVGVGGCCSGPGHSKRRRQAPGVGA
VGGGSPEREEVGAGYNSEDEYEAAAARIEAMDPATVEQQKHWFEKALRDKKGFIIKQMKEDGACLFRAVADQVYGDQDMH
EVVRKHCMDYLMKNADYFSNYVTEDFTTYINRKRKNNCHGNHIEMQAMAEMYNRPVEVYQYSTGTSAVEPINTFHGIHQN
EDEPIRVSYHRNIHYNSVVNPNKATIGVGLGLPSFKPGFAEQSLMKNAIKTSEESWIEQQMLEDKKRATDWEATNEAIEE
QVARESYLQWLRDQEKQARQVRGPSQPRKASATCSSATAAASSGLEEWTSRSPRQRSSASSPEHPELHAELGMKPPSPGT
VLALAKPPSPCAPGTSSQFSAGADRATSPLVSLYPALECRALIQQMSPSAFAGLNDWDDDEILASVLAVSQQEYLDSMKK
NKVHRDPPPDKS*

Gene Symbol:OTUD5
Accession:XM_017029628
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 200
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTILPKKKPPPPDADPANEPPPPGPMPPAPRRGGGVGVGGGGTGVGGGDRDRDSGVVGARPRASPPPQGPLPGPPGALHR
WALAVPPGAVAGPRPQQASPPPCGGPGGPGGGPGDALGAAAAGVGAAGVVVGVGGAVGVGGCCSGPGHSKRRRQAPGVGA
VGGGSPEREEVGAGYNSEDEYEAAAARIEAMDPATVEQQKHWFEKALRDKKGFIIKQMKEDGACLFRAVADQVYGDQDMH
EVVRKHCMDYLMKNADYFSNYVTEDFTTYINRKRKNNCHGNHIEMQAMAEMYNRPVEVYQYSTEPINTFHGIHQNEDEPI
RVSYHRNIHYNSVVNPNKATIGVGLGLPSFKPGFAEQSLMKNAIKTSEESWIEQQMLEDKKRATDWEATNEAIEEQVARE
SYLQWLRDQEKQARQVRGPSQPRKASATCSSATAAASSGLEEWTSRSPRQRSSASSPEHPELHAELGMKPPSPGTVLALA
KPPSPCAPGTSSQFSAGADRATSPLVSLYPALECRALIQQMSPSAFAGLNDWDDDEILASVLAVSQQEYLDSMKKNKVHR
DPPPDKS*

Gene Symbol:OTUD5
Accession:XM_011543934
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:33131077  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001290731 CLINVAR
dbSNP (RS) rs2063984022 CLINVAR
MedGen C5542341 CLINVAR
NCBI Gene OTUD5 CLINVAR
OMIM 300713 CLINVAR
  301056 CLINVAR
OMIM Allele 300713.0001 CLINVAR