RGD:401740653 Rat Genome Database

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Variant: RGD:401740653 -  Homo sapiens

RGD ID: 401740653
ClinVar ID: CV2738742
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ROBO1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 79,639,112
GRCh38 3 79,589,962
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002941.4:c.-50-1G>A
NG_011729.1:g.182948G>A
NC_000003.12:g.79589962C>T
NC_000003.11:g.79639112C>T
01/24/2023 splice acceptor variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:ROBO1
Accession:XM_047448661
Location:5UTRS;INTRON

Gene Symbol:ROBO1
Accession:XM_011533977
Location:5UTRS;INTRON

Gene Symbol:ROBO1
Accession:XM_047448664
Location:5UTRS;INTRON

Gene Symbol:ROBO1
Accession:XM_011533979
Location:5UTRS;INTRON

Gene Symbol:ROBO1
Accession:XM_011533980
Location:5UTRS;INTRON

Gene Symbol:ROBO1
Accession:XM_017006984
Location:5UTRS;INTRON

Gene Symbol:ROBO1
Accession:NM_002941
Location:5UTRS;INTRON

Gene Symbol:ROBO1
Accession:XM_011533976
Location:5UTRS;INTRON

Gene Symbol:ROBO1
Accession:XM_017006982
Location:5UTRS;INTRON

Gene Symbol:ROBO1
Accession:XM_011533978
Location:5UTRS;INTRON

Gene Symbol:ROBO1
Accession:NM_133631
Location:INTRON

Gene Symbol:ROBO1
Accession:XM_047448663
Location:INTRON

Gene Symbol:ROBO1
Accession:XM_006713277
Location:INTRON

Gene Symbol:ROBO1
Accession:XM_047448665
Location:INTRON

Gene Symbol:ROBO1
Accession:XM_017006983
Location:INTRON

Gene Symbol:ROBO1
Accession:XM_017006985
Location:INTRON

Gene Symbol:ROBO1
Accession:XM_047448662
Location:INTRON

Gene Symbol:ROBO1
Accession:NM_001145845
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003318136 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene ROBO1 CLINVAR
OMIM 602430 CLINVAR