RGD:11633140 Rat Genome Database

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Variant: RGD:11633140 -  Homo sapiens

RGD ID: 11633140
RS ID: rs886042006
ClinVar ID: CV264402
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EYA1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 72,233,968
GRCh38 8 71,321,733
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000008.11:g.71321733C>T
NC_000008.10:g.72233968C>T
NG_011735.3:g.231398G>A
NM_001288575.2:c.67+1G>A
More... 		09/19/2016 splice donor variant pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:EYA1
Accession:XM_047421527
Location:INTRON

Gene Symbol:EYA1
Accession:NM_001370333
Location:INTRON

Gene Symbol:EYA1
Accession:XM_047421522
Location:INTRON

Gene Symbol:EYA1
Accession:XM_047421529
Location:INTRON

Gene Symbol:EYA1
Accession:XM_047421525
Location:INTRON

Gene Symbol:EYA1
Accession:NM_172059
Location:INTRON

Gene Symbol:EYA1
Accession:XM_047421528
Location:INTRON

Gene Symbol:EYA1
Accession:NM_001411797
Location:INTRON

Gene Symbol:EYA1
Accession:NM_000503
Location:INTRON

Gene Symbol:EYA1
Accession:NM_172058
Location:INTRON

Gene Symbol:EYA1
Accession:XM_017013213
Location:INTRON

Gene Symbol:EYA1
Accession:NM_001370336
Location:INTRON

Gene Symbol:EYA1
Accession:XM_047421524
Location:INTRON

Gene Symbol:EYA1
Accession:XM_047421521
Location:INTRON

Gene Symbol:EYA1
Accession:XM_047421526
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:EYA1
Accession:XM_017013208
Location:INTRON

Gene Symbol:EYA1
Accession:NM_001288574
Location:INTRON

Gene Symbol:EYA1
Accession:XM_047421519
Location:INTRON

Gene Symbol:EYA1
Accession:XM_047421520
Location:INTRON

Gene Symbol:EYA1
Accession:XM_017013202
Location:INTRON

Gene Symbol:EYA1
Accession:XM_047421530
Location:INTRON

Gene Symbol:EYA1
Accession:NM_172060
Location:INTRON

Gene Symbol:EYA1
Accession:NM_001370335
Location:INTRON

Gene Symbol:EYA1
Accession:NM_001370334
Location:INTRON

Gene Symbol:EYA1
Accession:NM_001288575
Location:INTRON

Gene Symbol:EYA1
Accession:XM_011517484
Location:INTRON

Gene Symbol:EYA1
Accession:XM_047421523
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000315563 CLINVAR
dbSNP (RS) rs886042006 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene EYA1 CLINVAR
OMIM 601653 CLINVAR