RGD:11655582 Rat Genome Database

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Variant: RGD:11655582 -  Homo sapiens

RGD ID: 11655582
RS ID: rs886063095
ClinVar ID: CV305825
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EYA1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 72,274,335
GRCh38 8 71,362,100
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.71362100T>C
NM_000503.4:c.-508A>G
NM_001370335.1:c.-54-5589A>G
NM_001370336.1:c.34-5589A>G
More... 		06/14/2016 5 prime utr variant|intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EYA1
Accession:NM_001370334
Location:5UTRS;INTRON

Gene Symbol:EYA1
Accession:NM_001370335
Location:5UTRS;INTRON

Gene Symbol:EYA1
Accession:XM_047421530
Location:5UTRS;INTRON

Gene Symbol:EYA1
Accession:XM_047421525
Location:5UTRS;INTRON

Gene Symbol:EYA1
Accession:NM_000503
Location:INTRON

Gene Symbol:EYA1
Accession:XM_047421527
Location:INTRON

Gene Symbol:EYA1
Accession:XM_047421529
Location:INTRON

Gene Symbol:EYA1
Accession:NM_172059
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:EYA1
Accession:NM_001411797
Location:INTRON

Gene Symbol:EYA1
Accession:XM_047421526
Location:INTRON

Gene Symbol:EYA1
Accession:XM_011517484
Location:INTRON

Gene Symbol:EYA1
Accession:XM_047421528
Location:INTRON

Gene Symbol:EYA1
Accession:XM_047421520
Location:INTRON

Gene Symbol:EYA1
Accession:NM_172058
Location:INTRON

Gene Symbol:EYA1
Accession:XM_047421521
Location:INTRON

Gene Symbol:EYA1
Accession:NM_001288574
Location:INTRON

Gene Symbol:EYA1
Accession:XM_017013213
Location:INTRON

Gene Symbol:EYA1
Accession:NM_001288575
Location:INTRON

Gene Symbol:EYA1
Accession:XM_017013202
Location:INTRON

Gene Symbol:EYA1
Accession:NM_001370333
Location:INTRON

Gene Symbol:EYA1
Accession:XM_047421519
Location:INTRON

Gene Symbol:EYA1
Accession:XM_047421522
Location:INTRON

Gene Symbol:EYA1
Accession:XM_047421524
Location:INTRON

Gene Symbol:EYA1
Accession:XM_047421523
Location:INTRON

Gene Symbol:EYA1
Accession:NM_172060
Location:INTRON

Gene Symbol:EYA1
Accession:XM_017013208
Location:INTRON

Gene Symbol:EYA1
Accession:NM_001370336
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000326952 CLINVAR
  RCV000383898 CLINVAR
dbSNP (RS) rs886063095 CLINVAR
MedGen C3714941 CLINVAR
  CN043574 CLINVAR
NCBI Gene EYA1 CLINVAR
OMIM 166780 CLINVAR
  601653 CLINVAR