RGD:11060077 Rat Genome Database

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Variant: RGD:11060077 -  Homo sapiens

RGD ID: 11060077
RS ID: rs201405429
ClinVar ID: CV226925
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ROBO3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 124,744,752
GRCh38 11 124,874,856
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_022370.4:c.2020C>T
NG_016214.1:g.14448C>T
NC_000011.10:g.124874856C>T
NC_000011.9:g.124744752C>T
More... 		11/06/2018 missense variant benign|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ROBO3
Accession:NM_022370
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 674
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRYLLKTLLQMNLFADSLAGDISNSSELLLGFNSSLAALNHTLLPPGDPSLNGSRVGPEDAMPRIVEQPPDLLVSRGEP
ATLPCRAEGRPRPNIEWYKNGARVATVREDPRAHRLLLPSGALFFPRIVHGRRARPDEGVYTCVARNYLGAAASRNASLE
VAVLRDDFRQSPGNVVVAVGEPAVLECVPPRGHPEPSVSWRKDGARLKEEEGRITIRGGKLMMSHTLKSDAGMYVCVASN
MAGERESAAAEVMVLERPSFLRRPVNQVVLADAPVTFLCEVKGDPPPRLRWRKEDGELPTGRYEIRSDHSLWIGHVSAED
EGTYTCVAENSVGRAEASGSLSVHVPPQLVTQPQDQMAAPGESVAFQCETKGNPPPAIFWQKEGSQVLLFPSQSLQPTGR
FSVSPRGQLNITAVQRGDAGYYVCQAVSVAGSILAKALLEIKGASLDGLPPVILQGPANQTLVLGSSVWLPCRVTGNPQP
SVRWKKDGQWLQGDDLQFKTMANGTLYIANVQEMDMGFYSCVAKSSTGEATWSGWLKMREDWGVSPDPPTEPSSPPGAPS
QPVVTEITKNSITLTWKPNPQTGAAVTSYVIEAFSPAAGNTWRTVADGVQLETHTVSGLQPNTIYLFLVRAVGAWGLSEP
SPVSEPVRTQDSSPSRPVEDPWRGQQGLAEVAVCLQEPIVLGPRTLQVSWTVDGPVQLVQGFRVSWRVAGPEGGSWTMLD
LQSPSQQSTVLRGLPPGTQIQIKVQAQGQEGLGAESLSVTRSIPEEAPSGPPQGVAVALGGDGNSSITVSWEPPLPSQQN
GVITEYQIWCLGNESRFHLNRSAAGWARSAMLRGLVPGLLYRTLVAAATSAGVGVPSAPVLVQLPSPPDLEPGLEVGAGL
AVRLARVLREPAFLAGSGAACGALLLGLCAALYWRRKQRKELSHYTASFAYTPAVSFPHSEGLSGASSRPPMGLGPAPYS
WLADSWPHPSRSPSAQEPRGSCCPSNPDPDDRYYNEAGISLYLAQTARGTAAPGEGPVYSTIDPAGEELQTFHGGFPQHP
SGDLGPWSQYAPPEWSQGDSGAKGGKVKLLGKPVQMPSLNWPEALPPPPPSCELSCLEGPEEELEGSSEPEEWCPPMPER
SHLTEPSSSGGCLVTPSRRETPSPTPSYGQQSTATLTPSPPDPPQPPTDMPHLHQMPRRVPLGPSSPLSVSQPMLGIREA
RPAGLGAGPAASPHLSPSPAPSTASSAPGRTWQGNGEMTPPLQGPRARFRKKPKALPYRRENSPGDLPPPPLPPPEEEAS
WALELRAAGSMSSLERERSGERKAVQAVPLAAQRVLHPDEEAWLPYSRPSFLSRGQGTSTCSTAGSNSSRGSSSSRGSRG
PGRSRSRSQSRSQSQRPGQKRREEPR*

Gene Symbol:ROBO3
Accession:NM_001370356
Location:INTRON

Gene Symbol:ROBO3
Accession:NM_001370358
Location:INTRON

Gene Symbol:ROBO3
Accession:NM_001370364
Location:INTRON

Gene Symbol:ROBO3
Accession:NM_001370359
Location:INTRON

Gene Symbol:ROBO3
Accession:NM_001370366
Location:INTRON

Gene Symbol:ROBO3
Accession:NM_001370361
Location:INTRON

Gene Symbol:ROBO3
Accession:NM_001370357
Location:INTRON

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

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

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

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000210705 CLINVAR
  RCV000934006 CLINVAR
  RCV001108192 CLINVAR
  RCV003907783 CLINVAR
dbSNP (RS) rs201405429 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
  C4551964 CLINVAR
NCBI Gene ROBO3 CLINVAR
OMIM 607313 CLINVAR
  608630 CLINVAR