RGD:15110045 Rat Genome Database

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Variant: RGD:15110045 -  Homo sapiens

RGD ID: 15110045
RS ID: rs148108773
ClinVar ID: CV692815
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DCLRE1C  LOC127817312  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 14,995,974
GRCh38 10 14,953,975
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000010.10:g.14995974T>G
NC_000010.11:g.14953975T>G
NM_001289076.2:c.-169A>C
NM_001289078.2:c.-202A>C
More... 		10/23/2019 5 prime utr variant benign|likely benign AllHighlyPenetrant; 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; Severe combined immunodeficiency, athabascan-type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DCLRE1C
Accession:NM_001033858
Location:5UTRS;EXON

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

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

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

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

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

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

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

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

Gene Symbol:DCLRE1C
Accession:NM_001033855
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 12
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSFEGQMAEYPTISIDRFDRENLRARAYFLSHCHKDHMKGLRAPTLKRRLECSLKVYLYCSPVTKELLLTSPKYRFWKK
RIISIEIETPTQISLVDEASGEKEEIVVTLLPAGHCPGSVMFLFQGNNGTVLYTGDFRLAQGEAARMELLHSGGRVKDIQ
SVYLDTTFCDPRFYQIPSREECLSGVLELVRSWITRSPYHVVWLNCKAAYGYEYLFTNLSEELGVQVHVNKLDMFRNMPE
ILHHLTTDRNTQIHACRHPKAEEYFQWSKLPCGITSRNRIPLHIISIKPSTMWFGERSRKTNVIVRTGESSYRACFSFHS
SYSEIKDFLSYLCPVNAYPNVIPVGTTMDKVVEILKPLCRSSQSTEPKYKPLGKLKRARTVHRDSEEEDDYLFDDPLPIP
LRHKVPYPETFHPEVFSMTAVSEKQPEKLRQTPGCCRAECMQSSRFTNFVDCEESNSESEEEVGIPASLQGDLGSVLHLQ
KADGDVPQWEVFFKRNDEITDESLENFPSSTVAGGSQSPKLFSDSDGESTHISSQNSSQSTHITEQGSQGWDSQSDTVLL
SSQERNSGDITSLDKADYRPTIKENIPASLMEQNVICPKDTYSDLKSRDKDVTIVPSTGEPTTLSSETHIPEEKSLLNLS
TNADSQSSSDFEVPSTPEAELPKREHLQYLYEKLATGESIAVKKRKCSLLDT*

Gene Symbol:DCLRE1C
Accession:NM_001350965
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 12
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSFEGQMAEYPTISIDRFDRENLRARAYFLSHCHKDHMKGLRAPTLKRRLECSLKVYLYCSPVTKELLLTSPKYRFWKK
RIISIEIETPTQISLVDEASGEKEEIVVTLLPAGHCPGSVMFLFQGNNGTVLYTGDFRLAQGEAARMELLHSGGRVKDIQ
SVYLDTTFCDPRFYQIPSREECLSGVLELVRSWITRSPYHVVWLNCKAAYGYEYLFTNLSEELGVQVHVNKLDMFRNMPE
ILHHLTTDRNTQIHACRHPKAEEYFQWSKLPCGITSRNRIPLHIISIKPSTMWFGERSRKTNVIVRTGESSYRACFSFHS
SYSEIKDFLSYLCPVNAYPNVIPVGTTMDKVVEILKPLCRSSQSTEPKYKPLGKLKRARTVHRDSEEEDDYLFDDPLPIP
LRHKVPYPETFHPEVFSMTAVSEKQPEKLRQTPGCCRAECMQSSRFTNFVDCEESNSESEEEVGIPASLQGDLGSVLHLQ
KADGDVPQWEVFFKRNDEITDESLENFPSSTVAGGSQSPKLFSDSDGESTHISSQNSSQSTHITEQGSQGWDSQSDTVLL
SSQERNSGDITSLDKADYRPTIKENIPASLMEQNGLTLSLRLECGGAIMTPCIL*

Gene Symbol:DCLRE1C
Accession:XM_011519620
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 12
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSFEGQMAEYPTISIDRFDRENLRARAYFLSHCHKDHMKGLRAPTLKRRLECSLKVYLYCSPVTKELLLTSPKYRFWKK
RIISIEIETPTQISLVDEASGEKEEIVVTLLPAGHCPGSVMFLFQGNNGTVLYTGDFRLAQGEAARMELLHSGGRVKDIQ
SVYLDTTFCDPRFYQIPSREECLSGVLELVRSWITRSPYHVVWLNCKAAYGYEYLFTNLSEELGVQVHVNKLDMFRNMPE
ILHHLTTDRNTQIHACRHPKAEEYFQWSKLPCGITSRNRIPLHIISIKPSTMWFGERSRKTNVIVRTGESSYRACFSFHS
SYSEIKDFLSYLCPVNAYPNVIPVGTTMDKVVEILKPLCRSSQSTEPKYKPLGKLKRARTVHRDSGTE*

Gene Symbol:DCLRE1C
Accession:XM_011519621
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 12
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSFEGQMAEYPTISIDRFDRENLRARAYFLSHCHKDHMKGLRAPTLKRRLECSLKVYLYCSPVTKELLLTSPKYRFWKK
RIISIEIETPTQISLVDEASGEKEEIVVTLLPAGHCPGSVMFLFQGNNGTVLYTGDFRLAQGEAARMELLHSGGRVKDIQ
SVYLDTTFCDPRFYQIPSREECLSGVLELVRSWITRSPYHVVWLNCKAAYGYEYLFTNLSEELGVQVHVNKLDMFRNMPE
ILHHLTTDRNTQIHACRHPKAEEYFQWSKLPCGITSRNRIPLHIISIKPSTMWFGERSRKTNVIVRLKIS*

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

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

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

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

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

Gene Symbol:DCLRE1C
Accession:XM_047425652
Location:INTRON

Gene Symbol:DCLRE1C
Accession:XM_047425651
Location:INTRON

Gene Symbol:DCLRE1C
Accession:XM_047425650
Location:INTRON

Gene Symbol:DCLRE1C
Accession:XM_047425648
Location:INTRON

Gene Symbol:DCLRE1C
Accession:XM_047425649
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000872027 CLINVAR
  RCV001001856 CLINVAR
  RCV001830915 CLINVAR
dbSNP (RS) rs148108773 CLINVAR
MedGen C1865370 CLINVAR
  C1865371 CLINVAR
  CN169374 CLINVAR
NCBI Gene DCLRE1C CLINVAR
OMIM 602450 CLINVAR
  605988 CLINVAR