RGD:405064577 Rat Genome Database

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Variant: RGD:405064577 -  Homo sapiens

RGD ID: 405064577
ClinVar ID: CV3144757
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ROBO1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 78,763,544
GRCh38 3 78,714,394
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.1045+3A>G
NM_001145845.2:c.928+3A>G
NM_133631.4:c.928+3A>G
NG_011729.1:g.1058516A>G
More... 		05/13/2023 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:ROBO1
Accession:NM_133631
Location:INTRON

Gene Symbol:ROBO1
Accession:XM_006713277
Location:INTRON

Gene Symbol:ROBO1
Accession:XM_017006982
Location:INTRON

Gene Symbol:ROBO1
Accession:NM_002941
Location:INTRON

Gene Symbol:ROBO1
Accession:XM_017006983
Location:INTRON

Gene Symbol:ROBO1
Accession:XM_047448664
Location:INTRON

Gene Symbol:ROBO1
Accession:XM_047448665
Location:INTRON

Gene Symbol:ROBO1
Accession:XM_011533979
Location:INTRON

Gene Symbol:ROBO1
Accession:XM_011533977
Location:INTRON

Gene Symbol:ROBO1
Accession:XM_047448662
Location:INTRON

Gene Symbol:ROBO1
Accession:XM_011533976
Location:INTRON

Gene Symbol:ROBO1
Accession:XM_047448663
Location:INTRON

Gene Symbol:ROBO1
Accession:XM_011533980
Location:INTRON

Gene Symbol:ROBO1
Accession:XM_047448661
Location:INTRON

Gene Symbol:ROBO1
Accession:XM_017006984
Location:INTRON

Gene Symbol:ROBO1
Accession:XM_011533978
Location:INTRON

Gene Symbol:ROBO1
Accession:XM_017006985
Location:INTRON

Gene Symbol:ROBO1
Accession:NM_001145845
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003850534 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ROBO1 CLINVAR
OMIM 602430 CLINVAR