RGD:14721365 Rat Genome Database

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Variant: RGD:14721365 -  Homo sapiens

RGD ID: 14721365
RS ID: rs1599019391
ClinVar ID: CV646138
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GOSR2  LRRC37A2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 45,012,408
GRCh38 17 46,935,042
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NR_148349.2:n.383C>T
NM_001353116.2:c.333+2843C>T
NM_001321133.2:c.350C>T
NM_054022.4:c.350C>T
More... 		09/19/2018 intron variant uncertain significance Familial progressive myoclonic epilepsy; Myoclonic Epilepsies, Progressive; Myoclonus epilepsy; Progressive myoclonus epilepsy
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:GOSR2
Accession:NM_001321133
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLEILSSKEPPNKRQNARLRVDQLKYDVQHL
QTALRNFQHRRHAREQQERQREELLSRTFTTNDSDTIIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKG
TQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIETRSHHVAQNGPELLSSRDPPASASRSAGIIGMSHHPDLQIPFELR
LGFELWFYQLLAVISDQ*

Gene Symbol:GOSR2
Accession:NM_001353114
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIENEIQASIDQIFSRLERLEILSSKEPPNKRQNARLRVDQLKYDVQHLQ
TALRNFQHRRHAREQQERQREELLSRTFTTNDSDTIIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKGT
QKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIGGMLLTCVVMFLVVQYLT*

Gene Symbol:GOSR2
Accession:XM_006722190
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLEILSSKEPPNKRQNARLRVDQLKYDVQHL
QTALRNFQHRRHAREQQERQREELLSRTFTTNDSDTIIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKG
TQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIEPPKFLSQQESNKDLKRLDI*

Gene Symbol:GOSR2
Accession:XM_017025389
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 99
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRLETADKQSVHIVENEIQASIDQIFSRLERLEILSSKEPPNKRQNARLRVDQLKYDVQHLQTALRNFQHRRHAREQQE
RQREELLSRTFTTNDSDTIIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKGTQKKILDIANMLGLSNTV
MRLIEKRAFQDKYFMIDLVKPPTRRRQGRGCHCHTPSELPTTYVHAAEILMRAGEAVRLVWVWTSPTVLGRPGHDLFSLS
VLVGEMGMLIMAYFTELW*

Gene Symbol:GOSR2
Accession:NM_004287
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLEILSSKEPPNKRQNARLRVDQLKYDVQHL
QTALRNFQHRRHAREQQERQREELLSRTFTTNDSDTIIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKG
TQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIGGMLLTCVVMFLVVQYLT*

Gene Symbol:GOSR2
Accession:XM_017025378
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIENEIQASIDQIFSRLERLEILSSKEPPNKRQNARLRVDQLKYDVQHLQ
TALRNFQHRRHAREQQERQREELLSRTFTTNDSDTIIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKGT
QKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIETRSHHVAQNGPELLSSRDPPASASRSAGIIGMSHHPDLQIPFELRL
GFELWFYQLLAVISDQ*

Gene Symbol:GOSR2
Accession:NM_054022
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLEILSSKEPPNKRQNARLRVDQLKYDVQHL
QTALRNFQHRRHAREQQERQREELLSRTFTTNDSDTIIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKG
TQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIGTQGSCQTAHFGGRSAGSS*

Gene Symbol:GOSR2
Accession:XM_017025383
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLEILSSKEPPNKRQNARLRVDQLKYDVQHL
QTALRNFQHRRHAREQQERQREELLSRTFTTNDSDTIIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKG
TQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIETRSHHVAQNGPELLSSRDPPASASRSAGIIGEETEAQRG*

Gene Symbol:GOSR2
Accession:NM_001363851
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 99
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRLETADKQSVHIVENEIQASIDQIFSRLERLEILSSKEPPNKRQNARLRVDQLKYDVQHLQTALRNFQHRRHAREQQE
RQREELLSRTFTTNDSDTIIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKGTQKKILDIANMLGLSNTV
MRLIEKRAFQDKYFMIGGMLLTCVVMFLVVQYLT*

Gene Symbol:GOSR2
Accession:XM_047437113
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIENEIQASIDQIFSRLERLEILSSKEPPNKRQNARLRVDQLKYDVQHLQ
TALRNFQHRRHAREQQERQREELLSRTFTTNDSDTIIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKGT
QKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIDLVKPPTRRRQGRGCHCHTPSELPTTYVHAAEILMRAGEAVRLVWVW
TSPTVLGRPGHDLFSLSVLVGEMGMLIMAYFTELW*

Gene Symbol:GOSR2
Accession:XM_011525502
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLEILSSKEPPNKRQNARLRVDQLKYDVQHL
QTALRNFQHRRHAREQQERQREELLSRTFTTNDSDTIIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKG
TQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIAM*

Gene Symbol:GOSR2
Accession:NM_001012511
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLEILSSKEPPNKRQNARLRVDQLKYDVQHL
QTALRNFQHRRHAREQQERQREELLSRTFTTNDSDTIIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKV
GSLLGDREKASCFSLIQQFSNCVYILITCPQIVIF*

Gene Symbol:GOSR2
Accession:XM_047437116
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLEILSSKEPPNKRQNARLRVDQLKYDVQHL
QTALRNFQHRRHAREQQERQREELLSRTFTTNDSDTIIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKG
TQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIETRSHHVAQNGPELLSSRDPPASASRSAGIIAPLQWPCRSSGHKQK
AGAT*

Gene Symbol:GOSR2
Accession:XM_047437112
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLEILSSKEPPNKRQNARLRVDQLKYDVQHL
QTALRNFQHRRHAREQQERQREELLSRTFTTNDSDTIIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKG
TQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIDLVKPPTRRRQGRGCHCHTPSELPTTYVHAAEILMRAGEAVRLVWV
WTSPTVLGRPGHDLFSLSVLVGEMGMLIMAYFTELW*

Gene Symbol:GOSR2
Accession:XM_047437115
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 98
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRLETADKQSVHIENEIQASIDQIFSRLERLEILSSKEPPNKRQNARLRVDQLKYDVQHLQTALRNFQHRRHAREQQER
QREELLSRTFTTNDSDTIIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKGTQKKILDIANMLGLSNTVM
RLIEKRAFQDKYFMIDLVKPPTRRRQGRGCHCHTPSELPTTYVHAAEILMRAGEAVRLVWVWTSPTVLGRPGHDLFSLSV
LVGEMGMLIMAYFTELW*

Gene Symbol:GOSR2
Accession:XM_011525501
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLEILSSKEPPNKRQNARLRVDQLKYDVQHL
QTALRNFQHRRHAREQQERQREELLSRTFTTNDSDTIIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKG
TQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIATN*

Gene Symbol:GOSR2
Accession:XM_047437119
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLEILSSKEPPNKRQNARLRVDQLKYDVQHL
QTALRNFQHRRHAREQQERQREELLSRTFTTNDSDTIIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKG
TQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIAANRFLDF*

Gene Symbol:GOSR2
Accession:XM_047437114
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 99
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRLETADKQSVHIVENEIQASIDQIFSRLERLEILSSKEPPNKRQNARLRVDQLKYDVQHLQTALRNFQHRRHAREQQE
RQREELLSRTFTTNDSDTIIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKGTQKKILDIANMLGLSNTV
MRLIEKRAFQDKYFMIDLVKPPTRRRQGRGCHCHTPSELPTTYVHAAEILMRAGEAVRLVWVWTSPTVLGRPGHDLFSLS
VLVGEMGMLIMAYFTELW*

Gene Symbol:GOSR2
Accession:XR_007065552
Location:EXON;NON-CODING

Gene Symbol:GOSR2
Accession:XR_934616
Location:EXON;NON-CODING

Gene Symbol:GOSR2
Accession:NR_148349
Location:EXON;NON-CODING

Gene Symbol:GOSR2
Accession:XR_007065553
Location:EXON;NON-CODING

Gene Symbol:GOSR2
Accession:NM_001353116
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_011524848
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_047436144
Location:INTRON

Gene Symbol:GOSR2
Accession:XM_047437117
Location:INTRON

Gene Symbol:GOSR2
Accession:XM_017025387
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_047436142
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_011524849
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_024450773
Location:INTRON

Gene Symbol:GOSR2
Accession:XM_047437120
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_011524843
Location:INTRON

Gene Symbol:GOSR2
Accession:XM_047437118
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_011524841
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_011524844
Location:INTRON

Gene Symbol:GOSR2
Accession:NM_001330252
Location:INTRON

Gene Symbol:GOSR2
Accession:NM_001353115
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_011524842
Location:INTRON

Gene Symbol:LRRC37A2
Accession:NM_001385803
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_047436143
Location:INTRON

Gene Symbol:GOSR2
Accession:XM_017025386
Location:INTRON

Gene Symbol:GOSR2
Accession:XM_017025392
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_047436146
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_047436141
Location:INTRON

Gene Symbol:LRRC37A2
Accession:NM_001006607
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_011524846
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_047436147
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_011524850
Location:INTRON

Gene Symbol:GOSR2
Accession:NM_001321134
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_047436145
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XR_007065300
Location:INTRON;NON-CODING

Gene Symbol:GOSR2
Accession:NR_148350
Location:INTRON;NON-CODING

Gene Symbol:GOSR2
Accession:NR_148351
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000813453 CLINVAR
dbSNP (RS) rs1599019391 CLINVAR
MedGen C0751778 CLINVAR
NCBI Gene GOSR2 CLINVAR
  LRRC37A2 CLINVAR
OMIM 604027 CLINVAR
  616556 CLINVAR
SNOMED CT 267581004 CLINVAR