RGD:15015057 Rat Genome Database

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Variant: RGD:15015057 -  Homo sapiens

RGD ID: 15015057
RS ID: rs377224718
ClinVar ID: CV679557
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EYA4  LOC129661824  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 133,802,598
GRCh38 6 133,481,460
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001370459.1:c.827-3T>C
NM_001370458.1:c.902-3T>C
NG_011596.2:g.245104T>C
NM_172105.4:c.971-3T>C
More... 		05/23/2022 intron variant uncertain significance CARDIOMYOPATHY, DILATED, WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL DOMINANT
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:EYA4
Accession:XM_047418284
Location:INTRON

Gene Symbol:EYA4
Accession:XM_047418275
Location:INTRON

Gene Symbol:EYA4
Accession:XM_047418276
Location:INTRON

Gene Symbol:EYA4
Accession:XM_047418277
Location:INTRON

Gene Symbol:EYA4
Accession:XM_017010368
Location:INTRON

Gene Symbol:EYA4
Accession:XM_017010371
Location:INTRON

Gene Symbol:EYA4
Accession:XM_047418279
Location:INTRON

Gene Symbol:EYA4
Accession:XM_047418285
Location:INTRON

Gene Symbol:EYA4
Accession:XM_047418280
Location:INTRON

Gene Symbol:EYA4
Accession:XM_047418282
Location:INTRON

Gene Symbol:EYA4
Accession:XM_047418286
Location:INTRON

Gene Symbol:EYA4
Accession:XM_047418287
Location:INTRON

Gene Symbol:EYA4
Accession:XM_017010369
Location:INTRON

Gene Symbol:EYA4
Accession:XM_047418281
Location:INTRON

Gene Symbol:EYA4
Accession:NM_172105
Location:INTRON

Gene Symbol:EYA4
Accession:NM_172103
Location:INTRON

Gene Symbol:EYA4
Accession:XM_017010374
Location:INTRON

Gene Symbol:EYA4
Accession:XM_047418288
Location:INTRON

Gene Symbol:EYA4
Accession:NM_004100
Location:INTRON

Gene Symbol:EYA4
Accession:NM_001301013
Location:INTRON

Gene Symbol:EYA4
Accession:XM_047418278
Location:INTRON

Gene Symbol:EYA4
Accession:XM_005266851
Location:INTRON

Gene Symbol:EYA4
Accession:NM_001301012
Location:INTRON

Gene Symbol:EYA4
Accession:XM_017010373
Location:INTRON

Gene Symbol:EYA4
Accession:NM_001370459
Location:INTRON

Gene Symbol:EYA4
Accession:NM_001370458
Location:INTRON

Gene Symbol:EYA4
Accession:XM_047418283
Location:INTRON

Gene Symbol:EYA4
Accession:XR_007059221
Location:INTRON;NON-CODING

Gene Symbol:EYA4
Accession:XR_001743219
Location:INTRON;NON-CODING

Gene Symbol:EYA4
Accession:XR_001743220
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:25741868   PMID:28492532   PMID:31333075   PMID:31568572  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000853130 CLINVAR
  RCV002372388 CLINVAR
  RCV003768626 CLINVAR
dbSNP (RS) rs377224718 CLINVAR
MedGen C1854368 CLINVAR
  C4021133 CLINVAR
  CN230736 CLINVAR
NCBI Gene EYA4 CLINVAR
OMIM 603550 CLINVAR
  605362 CLINVAR