RGD:28909304 Rat Genome Database

Variant: RGD:28909304 - Homo sapiens

RGD ID:

28909304

RS ID:

rs751291981

ClinVar ID:

CV867444

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ROBO3

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	11	124,748,513
GRCh38	11	124,878,617

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NR_163410.1:n.593T>A NR_163411.1:n.745T>A NR_163412.1:n.788T>A NM_022370.3:c.3354T>A More...	01/12/2018	non-coding transcript variant	uncertain significance

Disease Annotations Click to see Annotation Detail View

Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	ROBO3
Accession:	NM_001370366
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	102

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGLGPAPYSWLADSWPHPSRSPSAQEPRGSCCPSNPDPDDRYYNGAKGGKVKLLGKPVQMPSLNWPEALPPPPPSCELSC LEGPEEELEGSSEPEEWCPPMPERSHLTEPSSSGGCLVTPSRRETPSPTPSYGQQSTATLTPSPPDPPQPPTDMPHLHQM PRRVPLGPSSPLSVSQPMLGIREARPAGLGAGPAASPHLSPSPAPSTASSAPGRTWQGNGEMTPPLQGPRARFRKKPKAL PYRRENSPGDLPPPPLPPPEEEASWALELRAAGSMSSLERERSGERKAVQAVPLAAQRVLHPDEEAWLPYSRPSFLSRGQ GTSTCSTAGSNSSRGSSSSRGSRGPGRSRSRSQSRSQSQRPGQKRREEPR*

Gene Symbol:	ROBO3
Accession:	NM_001370358
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	167

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGLGPAPYSWLADSWPHPSRSPSAQEPRGSCCPSNPDPDDRYYNEAGISLYLAQTARGTAAPGEGPVYSTIDPAGEELQT FHGGFPQHPSGDLGPWSQYAPPEWSQGDSGAKGGKVKLLGKPVQMPSLNWPEALPPPPPSCELSCLEGPEEELEGSSEPE EWCPPMPERSHLTEPSSSGGCLVTPSRRETPSPTPSYGQQSTATLTPSPPDPPQPPTDMPHLHQMPRRVPLGPSSPLSVS QPMLGIREARPAGLGAGPAASPHLSPSPAPSTASSAPGRTWQGNGEMTPPLQGPRARFRKKPKALPYRRENSPGDLPPPP LPPPEEEASWALELRAAGSMSSLERERSGERKAVQAVPLAAQRVLHPDEEAWLPYSRPSFLSRGQGTSTCSTAGSNSSRG SSSSRGSRGPGRSRSRSQSRSQSQRPGQKRREEPR*

Gene Symbol:	ROBO3
Accession:	NM_001370359
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	167

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGLGPAPYSWLADSWPHPSRSPSAQEPRGSCCPSNPDPDDRYYNEAGISLYLAQTARGTAAPGEGPVYSTIDPAGEELQT FHGGFPQHPSGDLGPWSQYAPPEWSQGDSGAKGGKVKLLGKPVQMPSLNWPEALPPPPPSCELSCLEGPEEELEGSSEPE EWCPPMPERSHLTEPSSSGGCLVTPSRRETPSPTPSYGQQSTATLTPSPPDPPQPPTDMPHLHQMPRRVPLGPSSPLSVS QPMLGIREARPAGLGAGPAASPHLSPSPAPSTASSAPGRTWQGNGEMTPPLQGPRARFRKKPKALPYRRENSPGDLPPPP LPPPEEEASWALELRAAGSMSSLERERSGERKAVQAVPLAAQRVLHPDEEAWLPYSRPSFLSRGQGTSTCSTAGSNSSRG SSSSRGSRGPGRSRSRSQSRSQSQRPGQKRREEPR*

Gene Symbol:	ROBO3
Accession:	NM_001370364
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	102

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGLGPAPYSWLADSWPHPSRSPSAQEPRGSCCPSNPDPDDRYYNGAKGGKVKLLGKPVQMPSLNWPEALPPPPPSCELSC LEGPEEELEGSSEPEEWCPPMPERSHLTEPSSSGGCLVTPSRRETPSPTPSYGQQSTATLTPSPPDPPQPPTDMPHLHQM PRRVPLGPSSPLSVSQPMLGIREARPAGLGAGPAASPHLSPSPAPSTASSAPGRTWQGNGEMTPPLQGPRARFRKKPKAL PYRRENSPGDLPPPPLPPPEEEASWALELRAAGSMSSLERERSGERKAVQAVPLAAQRVLHPDEEAWLPYSRPSFLSRGQ GTSTCSTAGSNSSRGSSSSRGSRGPGRSRSRSQSRSQSQRPGQKRREEPR*

Gene Symbol:	ROBO3
Accession:	NM_001370361
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	167

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGLGPAPYSWLADSWPHPSRSPSAQEPRGSCCPSNPDPDDRYYNEAGISLYLAQTARGTAAPGEGPVYSTIDPAGEELQT FHGGFPQHPSGDLGPWSQYAPPEWSQGDSGAKGGKVKLLGKPVQMPSLNWPEALPPPPPSCELSCLEGPEEELEGSSEPE EWCPPMPERSHLTEPSSSGGCLVTPSRRETPSPTPSYGQQSTATLTPSPPDPPQPPTDMPHLHQMPRRVPLGPSSPLSVS QPMLGIREARPAGLGAGPAASPHLSPSPAPSTASSAPGRTWQGNGEMTPPLQGPRARFRKKPKALPYRRENSPGDLPPPP LPPPEEEASWALELRAAGSMSSLERERSGERKAVQAVPLAAQRVLHPDEEAWLPYSRPSFLSRGQGTSTCSTAGSNSSRG SSSSRGSRGPGRSRSRSQSRSQSQRPGQKRREEPR*

Gene Symbol:	ROBO3
Accession:	NM_022370
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	1118

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRYLLKTLLQMNLFADSLAGDISNSSELLLGFNSSLAALNHTLLPPGDPSLNGSRVGPEDAMPRIVEQPPDLLVSRGEP ATLPCRAEGRPRPNIEWYKNGARVATVREDPRAHRLLLPSGALFFPRIVHGRRARPDEGVYTCVARNYLGAAASRNASLE VAVLRDDFRQSPGNVVVAVGEPAVLECVPPRGHPEPSVSWRKDGARLKEEEGRITIRGGKLMMSHTLKSDAGMYVCVASN MAGERESAAAEVMVLERPSFLRRPVNQVVLADAPVTFLCEVKGDPPPRLRWRKEDGELPTGRYEIRSDHSLWIGHVSAED EGTYTCVAENSVGRAEASGSLSVHVPPQLVTQPQDQMAAPGESVAFQCETKGNPPPAIFWQKEGSQVLLFPSQSLQPTGR FSVSPRGQLNITAVQRGDAGYYVCQAVSVAGSILAKALLEIKGASLDGLPPVILQGPANQTLVLGSSVWLPCRVTGNPQP SVRWKKDGQWLQGDDLQFKTMANGTLYIANVQEMDMGFYSCVAKSSTGEATWSGWLKMREDWGVSPDPPTEPSSPPGAPS QPVVTEITKNSITLTWKPNPQTGAAVTSYVIEAFSPAAGNTWRTVADGVQLETHTVSGLQPNTIYLFLVRAVGAWGLSEP SPVSEPVRTQDSSPSRPVEDPWRGQQGLAEVAVRLQEPIVLGPRTLQVSWTVDGPVQLVQGFRVSWRVAGPEGGSWTMLD LQSPSQQSTVLRGLPPGTQIQIKVQAQGQEGLGAESLSVTRSIPEEAPSGPPQGVAVALGGDGNSSITVSWEPPLPSQQN GVITEYQIWCLGNESRFHLNRSAAGWARSAMLRGLVPGLLYRTLVAAATSAGVGVPSAPVLVQLPSPPDLEPGLEVGAGL AVRLARVLREPAFLAGSGAACGALLLGLCAALYWRRKQRKELSHYTASFAYTPAVSFPHSEGLSGASSRPPMGLGPAPYS WLADSWPHPSRSPSAQEPRGSCCPSNPDPDDRYYNEAGISLYLAQTARGTAAPGEGPVYSTIDPAGEELQTFHGGFPQHP SGDLGPWSQYAPPEWSQGDSGAKGGKVKLLGKPVQMPSLNWPEALPPPPPSCELSCLEGPEEELEGSSEPEEWCPPMPER SHLTEPSSSGGCLVTPSRRETPSPTPSYGQQSTATLTPSPPDPPQPPTDMPHLHQMPRRVPLGPSSPLSVSQPMLGIREA RPAGLGAGPAASPHLSPSPAPSTASSAPGRTWQGNGEMTPPLQGPRARFRKKPKALPYRRENSPGDLPPPPLPPPEEEAS WALELRAAGSMSSLERERSGERKAVQAVPLAAQRVLHPDEEAWLPYSRPSFLSRGQGTSTCSTAGSNSSRGSSSSRGSRG PGRSRSRSQSRSQSQRPGQKRREEPR*

Gene Symbol:	ROBO3
Accession:	NM_001370356
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	167

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGLGPAPYSWLADSWPHPSRSPSAQEPRGSCCPSNPDPDDRYYNEAGISLYLAQTARGTAAPGEGPVYSTIDPAGEELQT FHGGFPQHPSGDLGPWSQYAPPEWSQGDSGAKGGKVKLLGKPVQMPSLNWPEALPPPPPSCELSCLEGPEEELEGSSEPE EWCPPMPERSHLTEPSSSGGCLVTPSRRETPSPTPSYGQQSTATLTPSPPDPPQPPTDMPHLHQMPRRVPLGPSSPLSVS QPMLGIREARPAGLGAGPAASPHLSPSPAPSTASSAPGRTWQGNGEMTPPLQGPRARFRKKPKALPYRRENSPGDLPPPP LPPPEEEASWALELRAAGSMSSLERERSGERKAVQAVPLAAQRVLHPDEEAWLPYSRPSFLSRGQGTSTCSTAGSNSSRG SSSSRGSRGPGRSRSRSQSRSQSQRPGQKRREEPR*

Gene Symbol:	ROBO3
Accession:	NM_001370357
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	167

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGLGPAPYSWLADSWPHPSRSPSAQEPRGSCCPSNPDPDDRYYNEAGISLYLAQTARGTAAPGEGPVYSTIDPAGEELQT FHGGFPQHPSGDLGPWSQYAPPEWSQGDSGAKGGKVKLLGKPVQMPSLNWPEALPPPPPSCELSCLEGPEEELEGSSEPE EWCPPMPERSHLTEPSSSGGCLVTPSRRETPSPTPSYGQQSTATLTPSPPDPPQPPTDMPHLHQMPRRVPLGPSSPLSVS QPMLGIREARPAGLGAGPAASPHLSPSPAPSTASSAPGRTWQGNGEMTPPLQGPRARFRKKPKALPYRRENSPGDLPPPP LPPPEEEASWALELRAAGSMSSLERERSGERKAVQAVPLAAQRVLHPDEEAWLPYSRPSFLSRGQGTSTCSTAGSNSSRG SSSSRGSRGPGRSRSRSQSRSQSQRPGQKRREEPR*

Gene Symbol:	ROBO3
Accession:	NR_163410
Location:	EXON;NON-CODING

Gene Symbol:	ROBO3
Accession:	NR_163411
Location:	EXON;NON-CODING

Gene Symbol:	ROBO3
Accession:	NR_163413
Location:	EXON;NON-CODING

Gene Symbol:	ROBO3
Accession:	NR_163412
Location:	EXON;NON-CODING

Gene Symbol:	ROBO3
Accession:	NR_163414
Location:	EXON;NON-CODING

Gene Symbol:	ROBO3
Accession:	NR_163409
Location:	INTRON;NON-CODING

Gene Symbol:	ROBO3
Accession:	NR_163415
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001108297	CLINVAR
dbSNP (RS)	rs751291981	CLINVAR
MedGen	C4551964	CLINVAR
NCBI Gene	ROBO3	CLINVAR
OMIM	607313	CLINVAR
	608630	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:28909304 - Homo sapiens

Imported Disease Annotations - ClinVar