RGD:14741834 Rat Genome Database

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Variant: RGD:14741834 -  Homo sapiens

RGD ID: 14741834
RS ID: rs1286041018
ClinVar ID: CV646132
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GOSR2  LOC126862578  LRRC37A2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 45,008,524
GRCh38 17 46,931,158
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001363851.2:c.100G>A
NM_001353114.2:c.151G>A
NM_001353115.2:c.151G>A
NM_001353116.2:c.151G>A
More... 		10/26/2018 missense 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_004287
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLKILSSKEPPNKRQNARLRVDQLKYDVQHL
QTALRNFQHRRHAREQQERQREELLSRTFTTNDSDTTIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKG
TQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIGGMLLTCVVMFLVVQYLT*

Gene Symbol:GOSR2
Accession:XM_047437120
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLKILSSKEPPNKRQNARLRVDQLKYDVQHL
QTALRNFQHRRHAREQQERQREELLSRTFTTNGTQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIEPPKFLSQQESNK
DLKRLDI*

Gene Symbol:GOSR2
Accession:XM_047437117
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLKILSSKEPPNKRQNARLRVDQLKYDVQHL
QTALRNFQHRRHAREQQERQREELLSRTFTTNGTQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIDLVKPPTRRRQGR
GCHCHTPSELPTTYVHAAEILMRAGEAVRLVWVWTSPTVLGRPGHDLFSLSVLVGEMGMLIMAYFTELW*

Gene Symbol:GOSR2
Accession:XM_011525502
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLKILSSKEPPNKRQNARLRVDQLKYDVQHL
QTALRNFQHRRHAREQQERQREELLSRTFTTNDSDTTIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKG
TQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIAM*

Gene Symbol:GOSR2
Accession:XM_047437114
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 34
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRLETADKQSVHIVENEIQASIDQIFSRLERLKILSSKEPPNKRQNARLRVDQLKYDVQHLQTALRNFQHRRHAREQQE
RQREELLSRTFTTNDSDTTIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKGTQKKILDIANMLGLSNTV
MRLIEKRAFQDKYFMIDLVKPPTRRRQGRGCHCHTPSELPTTYVHAAEILMRAGEAVRLVWVWTSPTVLGRPGHDLFSLS
VLVGEMGMLIMAYFTELW*

Gene Symbol:GOSR2
Accession:XM_011525501
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLKILSSKEPPNKRQNARLRVDQLKYDVQHL
QTALRNFQHRRHAREQQERQREELLSRTFTTNDSDTTIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKG
TQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIATN*

Gene Symbol:GOSR2
Accession:NM_001353114
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIENEIQASIDQIFSRLERLKILSSKEPPNKRQNARLRVDQLKYDVQHLQ
TALRNFQHRRHAREQQERQREELLSRTFTTNDSDTTIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKGT
QKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIGGMLLTCVVMFLVVQYLT*

Gene Symbol:GOSR2
Accession:NM_001321134
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 34
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRLETADKQSVHIVENEIQASIDQIFSRLERLKILSSKEPPNKRQNARLRVDQLKYDVQHLQTALRNFQHRRHAREQQE
RQREELLSRTFTTNGTQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIGGMLLTCVVMFLVVQYLT*

Gene Symbol:GOSR2
Accession:XM_006722190
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLKILSSKEPPNKRQNARLRVDQLKYDVQHL
QTALRNFQHRRHAREQQERQREELLSRTFTTNDSDTTIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKG
TQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIEPPKFLSQQESNKDLKRLDI*

Gene Symbol:GOSR2
Accession:XM_017025386
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLKILSSKEPPNKRQNARLRVDQLKYDVQHL
QTALRNFQHRRHAREQQERQREELLSRTFTTNGTQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIETRSHHVAQNGPE
LLSSRDPPASASRSAGIIGMSHHPDLQIPFELRLGFELWFYQLLAVISDQ*

Gene Symbol:GOSR2
Accession:XM_017025378
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIENEIQASIDQIFSRLERLKILSSKEPPNKRQNARLRVDQLKYDVQHLQ
TALRNFQHRRHAREQQERQREELLSRTFTTNDSDTTIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKGT
QKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIETRSHHVAQNGPELLSSRDPPASASRSAGIIGMSHHPDLQIPFELRL
GFELWFYQLLAVISDQ*

Gene Symbol:GOSR2
Accession:XM_017025387
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIENEIQASIDQIFSRLERLKILSSKEPPNKRQNARLRVDQLKYDVQHLQ
TALRNFQHRRHAREQQERQREELLSRTFTTNGTQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIETRSHHVAQNGPEL
LSSRDPPASASRSAGIIGMSHHPDLQIPFELRLGFELWFYQLLAVISDQ*

Gene Symbol:GOSR2
Accession:NM_001330252
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLKILSSKEPPNKRQNARLRVDQLKYDVQHL
QTALRNFQHRRHAREQQERQREELLSRTFTTNGTQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIGGMLLTCVVMFLV
VQYLT*

Gene Symbol:GOSR2
Accession:XM_017025383
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLKILSSKEPPNKRQNARLRVDQLKYDVQHL
QTALRNFQHRRHAREQQERQREELLSRTFTTNDSDTTIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKG
TQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIETRSHHVAQNGPELLSSRDPPASASRSAGIIGEETEAQRG*

Gene Symbol:GOSR2
Accession:NM_001353115
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIENEIQASIDQIFSRLERLKILSSKEPPNKRQNARLRVDQLKYDVQHLQ
TALRNFQHRRHAREQQERQREELLSRTFTTNGTQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIGGMLLTCVVMFLVV
QYLT*

Gene Symbol:GOSR2
Accession:NM_001353116
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIENEIQASIDQIFSRLERLKILSSKEPPNKRQNARLRVDQLKYDVQHLQ
TALRNFQHRRHAREQQERQREELLSRTFTTNGTQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIGTQGSCQTAHFGGR
SAGSS*

Gene Symbol:GOSR2
Accession:NM_001321133
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLKILSSKEPPNKRQNARLRVDQLKYDVQHL
QTALRNFQHRRHAREQQERQREELLSRTFTTNDSDTTIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKG
TQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIETRSHHVAQNGPELLSSRDPPASASRSAGIIGMSHHPDLQIPFELR
LGFELWFYQLLAVISDQ*

Gene Symbol:GOSR2
Accession:XM_047437113
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIENEIQASIDQIFSRLERLKILSSKEPPNKRQNARLRVDQLKYDVQHLQ
TALRNFQHRRHAREQQERQREELLSRTFTTNDSDTTIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKGT
QKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIDLVKPPTRRRQGRGCHCHTPSELPTTYVHAAEILMRAGEAVRLVWVW
TSPTVLGRPGHDLFSLSVLVGEMGMLIMAYFTELW*

Gene Symbol:GOSR2
Accession:XM_047437118
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIENEIQASIDQIFSRLERLKILSSKEPPNKRQNARLRVDQLKYDVQHLQ
TALRNFQHRRHAREQQERQREELLSRTFTTNGTQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIDLVKPPTRRRQGRG
CHCHTPSELPTTYVHAAEILMRAGEAVRLVWVWTSPTVLGRPGHDLFSLSVLVGEMGMLIMAYFTELW*

Gene Symbol:GOSR2
Accession:XM_047437115
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 33
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRLETADKQSVHIENEIQASIDQIFSRLERLKILSSKEPPNKRQNARLRVDQLKYDVQHLQTALRNFQHRRHAREQQER
QREELLSRTFTTNDSDTTIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKGTQKKILDIANMLGLSNTVM
RLIEKRAFQDKYFMIDLVKPPTRRRQGRGCHCHTPSELPTTYVHAAEILMRAGEAVRLVWVWTSPTVLGRPGHDLFSLSV
LVGEMGMLIMAYFTELW*

Gene Symbol:GOSR2
Accession:NM_001363851
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 34
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRLETADKQSVHIVENEIQASIDQIFSRLERLKILSSKEPPNKRQNARLRVDQLKYDVQHLQTALRNFQHRRHAREQQE
RQREELLSRTFTTNDSDTTIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKGTQKKILDIANMLGLSNTV
MRLIEKRAFQDKYFMIGGMLLTCVVMFLVVQYLT*

Gene Symbol:GOSR2
Accession:XM_047437116
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLKILSSKEPPNKRQNARLRVDQLKYDVQHL
QTALRNFQHRRHAREQQERQREELLSRTFTTNDSDTTIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKG
TQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIETRSHHVAQNGPELLSSRDPPASASRSAGIIAPLQWPCRSSGHKQK
AGAT*

Gene Symbol:GOSR2
Accession:NM_054022
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLKILSSKEPPNKRQNARLRVDQLKYDVQHL
QTALRNFQHRRHAREQQERQREELLSRTFTTNDSDTTIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKG
TQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIGTQGSCQTAHFGGRSAGSS*

Gene Symbol:GOSR2
Accession:XM_017025392
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLKILSSKEPPNKRQNARLRVDQLKYDVQHL
QTALRNFQHRRHAREQQERQREELLSRTFTTNGTQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIDKEHMFLTRECAL
FPTHSHHWRSLSFGEVGTG*

Gene Symbol:GOSR2
Accession:XM_047437119
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLKILSSKEPPNKRQNARLRVDQLKYDVQHL
QTALRNFQHRRHAREQQERQREELLSRTFTTNDSDTTIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKG
TQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIAANRFLDF*

Gene Symbol:GOSR2
Accession:XM_047437112
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLKILSSKEPPNKRQNARLRVDQLKYDVQHL
QTALRNFQHRRHAREQQERQREELLSRTFTTNDSDTTIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKG
TQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIDLVKPPTRRRQGRGCHCHTPSELPTTYVHAAEILMRAGEAVRLVWV
WTSPTVLGRPGHDLFSLSVLVGEMGMLIMAYFTELW*

Gene Symbol:GOSR2
Accession:NM_001012511
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLKILSSKEPPNKRQNARLRVDQLKYDVQHL
QTALRNFQHRRHAREQQERQREELLSRTFTTNDSDTTIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKV
GSLLGDREKASCFSLIQQFSNCVYILITCPQIVIF*

Gene Symbol:GOSR2
Accession:XM_017025389
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 34
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRLETADKQSVHIVENEIQASIDQIFSRLERLKILSSKEPPNKRQNARLRVDQLKYDVQHLQTALRNFQHRRHAREQQE
RQREELLSRTFTTNDSDTTIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKGTQKKILDIANMLGLSNTV
MRLIEKRAFQDKYFMIDLVKPPTRRRQGRGCHCHTPSELPTTYVHAAEILMRAGEAVRLVWVWTSPTVLGRPGHDLFSLS
VLVGEMGMLIMAYFTELW*

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

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

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

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

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

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

Gene Symbol:LRRC37A2
Accession:XM_011524849
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_011524843
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_011524842
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_047436145
Location:INTRON

Gene Symbol:LRRC37A2
Accession:NM_001385803
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_047436142
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_011524844
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_047436141
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_047436143
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_047436147
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_024450773
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_047436146
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_011524850
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_047436144
Location:INTRON

Gene Symbol:LRRC37A2
Accession:NM_001006607
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_011524841
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_011524848
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_011524846
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000822416 CLINVAR
  RCV002535950 CLINVAR
dbSNP (RS) rs1286041018 CLINVAR
MedGen C0751778 CLINVAR
  C0950123 CLINVAR
NCBI Gene GOSR2 CLINVAR
  LOC126862578 CLINVAR
  LRRC37A2 CLINVAR
OMIM 604027 CLINVAR
  616556 CLINVAR
SNOMED CT 267581004 CLINVAR