RGD:28905443 Rat Genome Database

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Variant: RGD:28905443 -  Homo sapiens

RGD ID: 28905443
RS ID: rs2076094603
ClinVar ID: CV877279
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTNS  CTNS-AS1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 3,558,372
GRCh38 17 3,655,078
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012489.2:g.23611T>C
NC_000017.11:g.3655078T>C
NC_000017.10:g.3558372T>C
NM_004937.2:c.306T>C
More... 		10/20/2021 5 prime utr variant likely benign|uncertain significance Abderhalden Lignac Kaufmann disease; Abderhalden-Kaufmann-Lignac syndrome; Cystinosin, defect of; Cystinosis, adult, nonnephropathic; Cystinosis, benign, nonnephropathic; CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE; Cystinosis, ocular nonnephropathic; Inborn genetic diseases; Juvenile nephropathic cystinosis; Lysosomal cystine transport protein, defect of

Variant Details
Variant Transcripts
Gene Symbol:CTNS
Accession:NM_001374495
Location:5UTRS;EXON

Gene Symbol:CTNS
Accession:NM_001374496
Location:5UTRS;EXON

Gene Symbol:CTNS
Accession:XM_011523692
Location:5UTRS;EXON

Gene Symbol:CTNS
Accession:NM_001374494
Location:5UTRS;EXON

Gene Symbol:CTNS
Accession:NM_001374493
Location:5UTRS;EXON

Gene Symbol:CTNS
Accession:XM_011523691
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIRNWLTIFILFPLKLVEKCESSVSLTVPPVVKLENGSSTNVSLTLRPPLNATLVITFEITFRSKNITILELPDEVVVPP
GVTNSSFQVTSQNVGQLTVYLHGNHSNQTGPRIRFLVIRSSAISIINQVIGWIYFVAWSISFYPQVIMNWRRKSVIGLSF
DFVALNLTGFVAYSVFNIGLLWVPYIKEQFLLKYPNGVNPVNSNDVFFSLHAVVLTLIIIVQCCLYERGGQRVSWPAIGF
LVLAWLFAFVTMIVAAVGVTTWLQFLFCFSYIKLAVTLVKYFPQAYMNFYYKSTEGWSIGNVLLDFTGGSFSLLQMFLQS
YNNDQWTLIFGDPTKFGLGVFSIVFDVVFFIQHFCLYRKRPGLQAARTGSGSRLRQDWAPSLQPKALPQTTSVSASSLKG
*

Gene Symbol:CTNS
Accession:NM_001374492
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIRNWLTIFILFPLKLVEKCESSVSLTVPPVVKLENGSSTNVSLTLRPPLNATLVITFEITFRSKNITILELPDEVVVPP
GVTNSSFQVTSQNVGQLTVYLHGNHSNQTGPRIRFLVIRSSAISIINQVIGWIYFVAWSISFYPQVIMNWRRKSVIGLSF
DFVALNLTGFVAYSVFNIGLLWVPYIKEQFLLKYPNGVNPVNSNDVFFSLHAVVLTLIIIVQCCLYERGGQRVSWPAIGF
LVLAWLFAFVTMIVAAVGVTTWLQFLFCFSYIKLAVTLVKYFPQAYMNFYYKSTEGWSIGNVLLDFTGGSFSLLQMFLQS
YNNDQWTLIFGDPTKFGLGVFSIVFDVVFFIQHFCLYRKRPGLQAARTGSGSRLRQDWAPSLQPKALPQTTSVSASSLKG
*

Gene Symbol:CTNS
Accession:XM_006721463
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIRNWLTIFILFPLKLVEKCESSVSLTVPPVVKLENGSSTNVSLTLRPPLNATLVITFEITFRSKNITILELPDEVVVPP
GVTNSSFQVTSQNVGQLTVYLHGNHSNQTGPRIRFLVIRSSAISIINQVIGWIYFVAWSISFYPQVIMNWRRKSVIGLSF
DFVALNLTGFVAYSVFNIGLLWVPYIKEQFLLKYPNGVNPVNSNDVFFSLHAVVLTLIIIVQCCLYERGGQRVSWPAIGF
LVLAWLFAFVTMIVAAVGVTTWLQFLFCFSYIKLAVTLVKYFPQAYMNFYYKSTEGWSIGNVLLDFTGGSFSLLQMFLQS
YNNDQWTLIFGDPTKFGLGVFSIVFDVVFFIQHFCLYRKRPGLQAARTGSGSRLRQDWAPSLQPKALPQTTSVSASSLKG
*

Gene Symbol:CTNS
Accession:NM_001031681
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIRNWLTIFILFPLKLVEKCESSVSLTVPPVVKLENGSSTNVSLTLRPPLNATLVITFEITFRSKNITILELPDEVVVPP
GVTNSSFQVTSQNVGQLTVYLHGNHSNQTGPRIRFLVIRSSAISIINQVIGWIYFVAWSISFYPQVIMNWRRKSVIGLSF
DFVALNLTGFVAYSVFNIGLLWVPYIKEQFLLKYPNGVNPVNSNDVFFSLHAVVLTLIIIVQCCLYERGGQRVSWPAIGF
LVLAWLFAFVTMIVAAVGVTTWLQFLFCFSYIKLAVTLVKYFPQAYMNFYYKSTEGWSIGNVLLDFTGGSFSLLQMFLQS
YNNDQWTLIFGDPTKFGLGVFSIVFDVVFFIQHFCLYRKRPGLQAARTGSGSRLRQDWAPSLQPKALPQTTSVSASSLKG
*

Gene Symbol:CTNS
Accession:NM_004937
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIRNWLTIFILFPLKLVEKCESSVSLTVPPVVKLENGSSTNVSLTLRPPLNATLVITFEITFRSKNITILELPDEVVVPP
GVTNSSFQVTSQNVGQLTVYLHGNHSNQTGPRIRFLVIRSSAISIINQVIGWIYFVAWSISFYPQVIMNWRRKSVIGLSF
DFVALNLTGFVAYSVFNIGLLWVPYIKEQFLLKYPNGVNPVNSNDVFFSLHAVVLTLIIIVQCCLYERGGQRVSWPAIGF
LVLAWLFAFVTMIVAAVGVTTWLQFLFCFSYIKLAVTLVKYFPQAYMNFYYKSTEGWSIGNVLLDFTGGSFSLLQMFLQS
YNNDQWTLIFGDPTKFGLGVFSIVFDVVFFIQHFCLYRKRPGYDQLN*

Gene Symbol:CTNS
Accession:XM_047435501
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIRNWLTIFILFPLKLVEKCESSVSLTVPPVVKLENGSSTNVSLTLRPPLNATLVITFEITFRSKNITILELPDEVVVPP
GVTNSSFQVTSQNVGQLTVYLHGNHSNQTGPRIRFLVIRSSAISIINQVIGWIYFVAWSISFYPQVIMNWRRKSVIGLSF
DFVALNLTGFVAYSVFNIGLLWVPYIKEQFLLKYPNGVNPVNSNDVFFSLHAVVLTLIIIVQCCLYERGGQRVSWPAIGF
LVLAWLFAFVTMIVAAVGVTTWLQFLFCFSYIKLAVTLVKYFPQVPPGPCSHGRWQER*

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

Gene Symbol:CTNS-AS1
Accession:XR_934160
Location:INTRON;NON-CODING

Gene Symbol:CTNS-AS1
Accession:XR_934161
Location:INTRON;NON-CODING

Gene Symbol:CTNS-AS1
Accession:XR_934159
Location:INTRON;NON-CODING

Gene Symbol:CTNS-AS1
Accession:XR_934162
Location:INTRON;NON-CODING

Gene Symbol:CTNS-AS1
Accession:XR_934158
Location:INTRON;NON-CODING

Gene Symbol:CTNS-AS1
Accession:XR_934163
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001126522 CLINVAR
  RCV001128584 CLINVAR
  RCV002556755 CLINVAR
dbSNP (RS) rs2076094603 CLINVAR
MedGen C2931013 CLINVAR
  C2931187 CLINVAR
NCBI Gene CTNS CLINVAR
  CTNS-AS1 CLINVAR
OMIM 219750 CLINVAR
  219800 CLINVAR
  219900 CLINVAR
  606272 CLINVAR
SNOMED CT 22830006 CLINVAR