RGD:405135015 Rat Genome Database

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Variant: RGD:405135015 -  Homo sapiens

RGD ID: 405135015
ClinVar ID: CV3052011
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EYS  PHF3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 64,431,699
GRCh38 6 63,721,803
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001290259.2:c.*8095A>G
NM_001370348.2:c.*8095A>G
NM_001370349.2:c.*8095A>G
NM_001370350.2:c.*8095A>G
More... 		12/15/2023 3 prime utr variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PHF3
Accession:NM_001290259
Location:3UTRS;EXON

Gene Symbol:PHF3
Accession:XM_047418529
Location:3UTRS;EXON

Gene Symbol:PHF3
Accession:NM_001370349
Location:3UTRS;EXON

Gene Symbol:PHF3
Accession:XM_011535648
Location:3UTRS;EXON

Gene Symbol:PHF3
Accession:XM_047418528
Location:3UTRS;EXON

Gene Symbol:PHF3
Accession:XM_047418530
Location:3UTRS;EXON

Gene Symbol:PHF3
Accession:NM_001370350
Location:3UTRS;EXON

Gene Symbol:PHF3
Accession:NM_015153
Location:3UTRS;EXON

Gene Symbol:PHF3
Accession:NM_001370348
Location:3UTRS;EXON

Gene Symbol:EYS
Accession:NM_001142800
Location:INTRON

Gene Symbol:PHF3
Accession:NM_001290260
Location:INTRON

Gene Symbol:EYS
Accession:NM_198283
Location:INTRON

Gene Symbol:EYS
Accession:NM_001292009
Location:INTRON

Gene Symbol:EYS
Accession:NM_001142801
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003725161 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene EYS CLINVAR
  PHF3 CLINVAR
OMIM 607789 CLINVAR
  612424 CLINVAR