RGD:13485458 Rat Genome Database

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Variant: RGD:13485458 -  Homo sapiens

RGD ID: 13485458
RS ID: rs1553171703
ClinVar ID: CV442731
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EPHB2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 23,189,527
GRCh38 1 22,863,034
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004442.7:c.812-3C>G
NC_000001.10:g.23189527C>G
NM_017449.3:c.812-3C>G
LRG_780t1:c.812-3C>G
More... 		06/26/2019 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:EPHB2
Accession:NM_001309192
Location:INTRON

Gene Symbol:EPHB2
Accession:NM_004442
Location:INTRON

Gene Symbol:EPHB2
Accession:NM_017449
Location:INTRON

Gene Symbol:EPHB2
Accession:XM_006710442
Location:INTRON

Gene Symbol:EPHB2
Accession:XM_006710441
Location:INTRON

Gene Symbol:EPHB2
Accession:NM_001309193
Location:INTRON

Gene Symbol:EPHB2
Accession:XM_047449104
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000522615 CLINVAR
dbSNP (RS) rs1553171703 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene EPHB2 CLINVAR
OMIM 600997 CLINVAR