RGD:15176207 Rat Genome Database

Variant: RGD:15176207 - Homo sapiens

RGD ID:

15176207

RS ID:

rs186989674

ClinVar ID:

CV701644

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ROBO3

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	11	124,751,139
GRCh38	11	124,881,243

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
NM_001370364.1:c.1106C>T NM_001370366.1:c.1106C>T NM_001370356.1:c.1301C>T NM_001370357.1:c.1301C>T More...	04/11/2018	missense variant	benign	none provided

Variant Details

Variant Transcripts

Gene Symbol:	ROBO3
Accession:	NM_001370366
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	369

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

Gene Symbol:	ROBO3
Accession:	NM_022370
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	1385

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 PGRSRSRSQSRSQSQRPGQKRREELR*

Gene Symbol:	ROBO3
Accession:	NM_001370361
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	434

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

Gene Symbol:	ROBO3
Accession:	NM_001370356
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	434

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

Gene Symbol:	ROBO3
Accession:	NM_001370364
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	369

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

Gene Symbol:	ROBO3
Accession:	NM_001370358
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	434

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

Gene Symbol:	ROBO3
Accession:	NM_001370359
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	434

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

Gene Symbol:	ROBO3
Accession:	NM_001370357
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	434

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

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

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

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

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

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

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

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

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000950772	CLINVAR
dbSNP (RS)	rs186989674	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	ROBO3	CLINVAR
OMIM	608630	CLINVAR

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

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

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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:15176207 - Homo sapiens