RGD:15119712 Rat Genome Database

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Variant: RGD:15119712 -  Homo sapiens

RGD ID: 15119712
RS ID: rs374837404
ClinVar ID: CV743704
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EPHB2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 23,222,083
GRCh38 1 22,895,590
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_017449.5:c.1700+10G>A
NM_004442.7:c.1700+10G>A
LRG_780:g.189753G>A
NM_001309192.2:c.1591+2544G>A
More... 		12/29/2017 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:EPHB2
Accession:XM_006710442
Location:INTRON

Gene Symbol:EPHB2
Accession:XM_047449104
Location:INTRON

Gene Symbol:EPHB2
Accession:NM_001309192
Location:INTRON

Gene Symbol:EPHB2
Accession:NM_017449
Location:INTRON

Gene Symbol:EPHB2
Accession:NM_004442
Location:INTRON

Gene Symbol:EPHB2
Accession:XM_006710441
Location:INTRON

Gene Symbol:EPHB2
Accession:NM_001309193
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000895773 CLINVAR
dbSNP (RS) rs374837404 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene EPHB2 CLINVAR
OMIM 600997 CLINVAR