RGD:11605993 Rat Genome Database

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Variant: RGD:11605993 -  Homo sapiens

RGD ID: 11605993
RS ID: rs77243350
ClinVar ID: CV315199
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EYA1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 72,110,791
GRCh38 8 71,198,556
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.71198556A>G
NC_000008.10:g.72110791A>G
NM_000503.4:c.*784T>C
NG_011735.3:g.354575T>C
More... 		01/12/2018 3 prime utr variant benign|likely benign BO syndrome 1; Branchiootic dysplasia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EYA1
Accession:XM_011517484
Location:3UTRS;EXON

Gene Symbol:EYA1
Accession:NM_000503
Location:3UTRS;EXON

Gene Symbol:EYA1
Accession:XM_047421519
Location:3UTRS;EXON

Gene Symbol:EYA1
Accession:NM_001411797
Location:3UTRS;EXON

Gene Symbol:EYA1
Accession:XM_017013213
Location:3UTRS;EXON

Gene Symbol:EYA1
Accession:XM_047421523
Location:3UTRS;EXON

Gene Symbol:EYA1
Accession:XM_047421525
Location:3UTRS;EXON

Gene Symbol:EYA1
Accession:XM_047421520
Location:3UTRS;EXON

Gene Symbol:EYA1
Accession:NM_172059
Location:3UTRS;EXON

Gene Symbol:EYA1
Accession:XM_017013202
Location:3UTRS;EXON

Gene Symbol:EYA1
Accession:XM_017013208
Location:3UTRS;EXON

Gene Symbol:EYA1
Accession:XM_047421522
Location:3UTRS;EXON

Gene Symbol:EYA1
Accession:XM_047421526
Location:3UTRS;EXON

Gene Symbol:EYA1
Accession:XM_047421521
Location:3UTRS;EXON

Gene Symbol:EYA1
Accession:NM_172058
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:EYA1
Accession:XM_047421524
Location:3UTRS;EXON

Gene Symbol:EYA1
Accession:NM_001288574
Location:3UTRS;EXON

Gene Symbol:EYA1
Accession:XM_047421529
Location:3UTRS;EXON

Gene Symbol:EYA1
Accession:NM_001370335
Location:3UTRS;EXON

Gene Symbol:EYA1
Accession:NM_001370333
Location:3UTRS;EXON

Gene Symbol:EYA1
Accession:NM_001370334
Location:3UTRS;EXON

Gene Symbol:EYA1
Accession:XM_047421528
Location:3UTRS;EXON

Gene Symbol:EYA1
Accession:XM_047421527
Location:3UTRS;EXON

Gene Symbol:EYA1
Accession:NM_172060
Location:3UTRS;EXON

Gene Symbol:EYA1
Accession:NM_001288575
Location:3UTRS;EXON

Gene Symbol:EYA1
Accession:NM_001370336
Location:3UTRS;EXON

Gene Symbol:EYA1
Accession:XM_047421530
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000326265 CLINVAR
  RCV000380922 CLINVAR
dbSNP (RS) rs77243350 CLINVAR
MedGen C1865143 CLINVAR
  C3714941 CLINVAR
NCBI Gene EYA1 CLINVAR
OMIM 166780 CLINVAR
  601653 CLINVAR
  602588 CLINVAR