RGD:152061454 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:152061454 -  Homo sapiens

RGD ID: 152061454
RS ID: rs141391272
ClinVar ID: CV1597205
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DCLRE1C  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 14,987,137
GRCh38 10 14,945,138
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001350967.2:c.-148G>A
NM_001289076.2:c.-44+3898G>A
NM_001033858.3:c.-470G>A
NM_001289079.2:c.-470G>A
More... 		11/15/2021 5 prime utr variant likely benign SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH SENSITIVITY TO IONIZING RADIATION; Severe combined immunodeficiency with sensitivity to ionizing radiation
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DCLRE1C
Accession:XM_047425651
Location:5UTRS;EXON

Gene Symbol:DCLRE1C
Accession:NM_001350967
Location:5UTRS;EXON

Gene Symbol:DCLRE1C
Accession:NM_001033858
Location:5UTRS;EXON

Gene Symbol:DCLRE1C
Accession:NM_001289079
Location:5UTRS;EXON

Gene Symbol:DCLRE1C
Accession:XM_047425648
Location:5UTRS;EXON

Gene Symbol:DCLRE1C
Accession:NM_001289078
Location:5UTRS;EXON

Gene Symbol:DCLRE1C
Accession:NM_001350966
Location:5UTRS;EXON

Gene Symbol:DCLRE1C
Accession:XM_047425650
Location:5UTRS;EXON

Gene Symbol:DCLRE1C
Accession:XM_047425649
Location:5UTRS;EXON

Gene Symbol:DCLRE1C
Accession:NM_001289077
Location:5UTRS;EXON

Gene Symbol:DCLRE1C
Accession:NM_001033857
Location:5UTRS;EXON

Gene Symbol:DCLRE1C
Accession:XM_047425652
Location:5UTRS;EXON

Gene Symbol:DCLRE1C
Accession:NM_022487
Location:5UTRS;EXON

Gene Symbol:DCLRE1C
Accession:NM_001289076
Location:5UTRS;INTRON

Gene Symbol:DCLRE1C
Accession:NM_001350965
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSFEGQMAEYPTISIDRFDRENLRARAYFLSHCHKDHMKGLRAPTLKRRLECSLKVYLYCSPVTKELLLTSPKYRFWKK
RIISIEIETPTQISLVDEASGEKEEIVVTLLPAGHCPGSVMFLFQGNNGTVLYTGDFRLAQGEAARMELLHSGGRVKDIQ
SVYLDTTFCDPRFYQIPSREECLSGVLELVRSWITRSPYHVVWLNCKAAYGYEYLFTNLSEELGVQVHVNKLDMFRNMPE
ILHHLTTDRNTQIHACRHPKAEEYFQWSKLPCGITSRNRIPLHIISIKPSTMWFGERSRKTNVIVRTGESSYRACFSFHS
SYSEIKDFLSYLCPVNAYPNVIPVGTTMDKVVEILKPLCRSSQSTEPKYKPLGKLKRARTVHRDSEEEDDYLFDDPLPIP
LRHKVPYPETFHPEVFSMTAVSEKQPEKLRQTPGCCRAECMQSSRFTNFVDCEESNSESEEEVGIPASLQGDLGSVLHLQ
KADGDVPQWEVFFKRNDEITDESLENFPSSTVAGGSQSPKLFSDSDGESTHISSQNSSQSTHITEQGSQGWDSQSDTVLL
SSQERNSGDITSLDKADYRPTIKENIPASLMEQNGLTLSLRLECGGAIMTPCIL*

Gene Symbol:DCLRE1C
Accession:XM_011519621
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSFEGQMAEYPTISIDRFDRENLRARAYFLSHCHKDHMKGLRAPTLKRRLECSLKVYLYCSPVTKELLLTSPKYRFWKK
RIISIEIETPTQISLVDEASGEKEEIVVTLLPAGHCPGSVMFLFQGNNGTVLYTGDFRLAQGEAARMELLHSGGRVKDIQ
SVYLDTTFCDPRFYQIPSREECLSGVLELVRSWITRSPYHVVWLNCKAAYGYEYLFTNLSEELGVQVHVNKLDMFRNMPE
ILHHLTTDRNTQIHACRHPKAEEYFQWSKLPCGITSRNRIPLHIISIKPSTMWFGERSRKTNVIVRLKIS*

Gene Symbol:DCLRE1C
Accession:XM_011519620
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSFEGQMAEYPTISIDRFDRENLRARAYFLSHCHKDHMKGLRAPTLKRRLECSLKVYLYCSPVTKELLLTSPKYRFWKK
RIISIEIETPTQISLVDEASGEKEEIVVTLLPAGHCPGSVMFLFQGNNGTVLYTGDFRLAQGEAARMELLHSGGRVKDIQ
SVYLDTTFCDPRFYQIPSREECLSGVLELVRSWITRSPYHVVWLNCKAAYGYEYLFTNLSEELGVQVHVNKLDMFRNMPE
ILHHLTTDRNTQIHACRHPKAEEYFQWSKLPCGITSRNRIPLHIISIKPSTMWFGERSRKTNVIVRTGESSYRACFSFHS
SYSEIKDFLSYLCPVNAYPNVIPVGTTMDKVVEILKPLCRSSQSTEPKYKPLGKLKRARTVHRDSGTE*

Gene Symbol:DCLRE1C
Accession:NM_001033855
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSFEGQMAEYPTISIDRFDRENLRARAYFLSHCHKDHMKGLRAPTLKRRLECSLKVYLYCSPVTKELLLTSPKYRFWKK
RIISIEIETPTQISLVDEASGEKEEIVVTLLPAGHCPGSVMFLFQGNNGTVLYTGDFRLAQGEAARMELLHSGGRVKDIQ
SVYLDTTFCDPRFYQIPSREECLSGVLELVRSWITRSPYHVVWLNCKAAYGYEYLFTNLSEELGVQVHVNKLDMFRNMPE
ILHHLTTDRNTQIHACRHPKAEEYFQWSKLPCGITSRNRIPLHIISIKPSTMWFGERSRKTNVIVRTGESSYRACFSFHS
SYSEIKDFLSYLCPVNAYPNVIPVGTTMDKVVEILKPLCRSSQSTEPKYKPLGKLKRARTVHRDSEEEDDYLFDDPLPIP
LRHKVPYPETFHPEVFSMTAVSEKQPEKLRQTPGCCRAECMQSSRFTNFVDCEESNSESEEEVGIPASLQGDLGSVLHLQ
KADGDVPQWEVFFKRNDEITDESLENFPSSTVAGGSQSPKLFSDSDGESTHISSQNSSQSTHITEQGSQGWDSQSDTVLL
SSQERNSGDITSLDKADYRPTIKENIPASLMEQNVICPKDTYSDLKSRDKDVTIVPSTGEPTTLSSETHIPEEKSLLNLS
TNADSQSSSDFEVPSTPEAELPKREHLQYLYEKLATGESIAVKKRKCSLLDT*

Gene Symbol:DCLRE1C
Accession:NR_146961
Location:EXON;NON-CODING

Gene Symbol:DCLRE1C
Accession:NR_146962
Location:EXON;NON-CODING

Gene Symbol:DCLRE1C
Accession:XR_930515
Location:EXON;NON-CODING

Gene Symbol:DCLRE1C
Accession:NR_110297
Location:EXON;NON-CODING

Gene Symbol:DCLRE1C
Accession:NR_146960
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002208701 CLINVAR
dbSNP (RS) rs141391272 CLINVAR
MedGen C1865370 CLINVAR
NCBI Gene DCLRE1C CLINVAR
OMIM 602450 CLINVAR
  605988 CLINVAR