RGD:11615680 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:11615680 -  Homo sapiens

RGD ID: 11615680
RS ID: rs201647994
ClinVar ID: CV344237
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTNS  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 3,563,925
GRCh38 17 3,660,631
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NM_004937.2:c.*262G>A
NC_000017.11:g.3660631G>A
NC_000017.10:g.3563925G>A
NP_001026851.2:p.Arg367His
More... 		01/13/2018 3 prime utr variant uncertain significance 1-9 / 1 000 000 Abderhalden Lignac Kaufmann disease; Abderhalden-Kaufmann-Lignac syndrome; Cystinosin, defect of; Cystinosis, adult, nonnephropathic; Cystinosis, benign, nonnephropathic; Cystinosis, ocular nonnephropathic; Lysosomal cystine transport protein, defect of
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CTNS
Accession:NM_001374493
Location:3UTRS;EXON

Gene Symbol:CTNS
Accession:NM_001374495
Location:3UTRS;EXON

Gene Symbol:CTNS
Accession:NM_004937
Location:3UTRS;EXON

Gene Symbol:CTNS
Accession:NM_001374496
Location:3UTRS;EXON

Gene Symbol:CTNS
Accession:NM_001374494
Location:3UTRS;EXON

Gene Symbol:CTNS
Accession:XM_011523691
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIRNWLTIFILFPLKLVEKCESSVSLTVPPVVKLENGSSTNVSLTLRPPLNATLVITFEITFRSKNITILELPDEVVVPP
GVTNSSFQVTSQNVGQLTVYLHGNHSNQTGPRIRFLVIRSSAISIINQVIGWIYFVAWSISFYPQVIMNWRRKSVIGLSF
DFVALNLTGFVAYSVFNIGLLWVPYIKEQFLLKYPNGVNPVNSNDVFFSLHAVVLTLIIIVQCCLYERGGQRVSWPAIGF
LVLAWLFAFVTMIVAAVGVTTWLQFLFCFSYIKLAVTLVKYFPQAYMNFYYKSTEGWSIGNVLLDFTGGSFSLLQMFLQS
YNNDQWTLIFGDPTKFGLGVFSIVFDVVFFIQHFCLYRKRPGLQAAHTGSGSRLRQDWAPSLQPKALPQTTSVSASSLKG
*

Gene Symbol:CTNS
Accession:XM_006721463
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIRNWLTIFILFPLKLVEKCESSVSLTVPPVVKLENGSSTNVSLTLRPPLNATLVITFEITFRSKNITILELPDEVVVPP
GVTNSSFQVTSQNVGQLTVYLHGNHSNQTGPRIRFLVIRSSAISIINQVIGWIYFVAWSISFYPQVIMNWRRKSVIGLSF
DFVALNLTGFVAYSVFNIGLLWVPYIKEQFLLKYPNGVNPVNSNDVFFSLHAVVLTLIIIVQCCLYERGGQRVSWPAIGF
LVLAWLFAFVTMIVAAVGVTTWLQFLFCFSYIKLAVTLVKYFPQAYMNFYYKSTEGWSIGNVLLDFTGGSFSLLQMFLQS
YNNDQWTLIFGDPTKFGLGVFSIVFDVVFFIQHFCLYRKRPGLQAAHTGSGSRLRQDWAPSLQPKALPQTTSVSASSLKG
*

Gene Symbol:CTNS
Accession:NM_001031681
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIRNWLTIFILFPLKLVEKCESSVSLTVPPVVKLENGSSTNVSLTLRPPLNATLVITFEITFRSKNITILELPDEVVVPP
GVTNSSFQVTSQNVGQLTVYLHGNHSNQTGPRIRFLVIRSSAISIINQVIGWIYFVAWSISFYPQVIMNWRRKSVIGLSF
DFVALNLTGFVAYSVFNIGLLWVPYIKEQFLLKYPNGVNPVNSNDVFFSLHAVVLTLIIIVQCCLYERGGQRVSWPAIGF
LVLAWLFAFVTMIVAAVGVTTWLQFLFCFSYIKLAVTLVKYFPQAYMNFYYKSTEGWSIGNVLLDFTGGSFSLLQMFLQS
YNNDQWTLIFGDPTKFGLGVFSIVFDVVFFIQHFCLYRKRPGLQAAHTGSGSRLRQDWAPSLQPKALPQTTSVSASSLKG
*

Gene Symbol:CTNS
Accession:NM_001374492
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIRNWLTIFILFPLKLVEKCESSVSLTVPPVVKLENGSSTNVSLTLRPPLNATLVITFEITFRSKNITILELPDEVVVPP
GVTNSSFQVTSQNVGQLTVYLHGNHSNQTGPRIRFLVIRSSAISIINQVIGWIYFVAWSISFYPQVIMNWRRKSVIGLSF
DFVALNLTGFVAYSVFNIGLLWVPYIKEQFLLKYPNGVNPVNSNDVFFSLHAVVLTLIIIVQCCLYERGGQRVSWPAIGF
LVLAWLFAFVTMIVAAVGVTTWLQFLFCFSYIKLAVTLVKYFPQAYMNFYYKSTEGWSIGNVLLDFTGGSFSLLQMFLQS
YNNDQWTLIFGDPTKFGLGVFSIVFDVVFFIQHFCLYRKRPGLQAAHTGSGSRLRQDWAPSLQPKALPQTTSVSASSLKG
*

Gene Symbol:CTNS
Accession:XM_011523692
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 220
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNWRRKSVIGLSFDFVALNLTGFVAYSVFNIGLLWVPYIKEQFLLKYPNGVNPVNSNDVFFSLHAVVLTLIIIVQCCLYE
RGGQRVSWPAIGFLVLAWLFAFVTMIVAAVGVTTWLQFLFCFSYIKLAVTLVKYFPQAYMNFYYKSTEGWSIGNVLLDFT
GGSFSLLQMFLQSYNNDQWTLIFGDPTKFGLGVFSIVFDVVFFIQHFCLYRKRPGLQAAHTGSGSRLRQDWAPSLQPKAL
PQTTSVSASSLKG*

Gene Symbol:CTNS
Accession:XM_047435501
Location:INTRON

Gene Symbol:CTNS
Accession:XR_007065277
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000288250 CLINVAR
  RCV000378656 CLINVAR
dbSNP (RS) rs201647994 CLINVAR
MedGen C2931013 CLINVAR
  C2931187 CLINVAR
NCBI Gene CTNS CLINVAR
OMIM 219750 CLINVAR
  219800 CLINVAR
  606272 CLINVAR