RGD:15161487 Rat Genome Database

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Variant: RGD:15161487 -  Homo sapiens

RGD ID: 15161487
RS ID: rs200503691
ClinVar ID: CV745444
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EVA1C  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 21 33,887,119
GRCh38 21 32,514,809
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001320744.2:c.629-5T>C
NM_001320745.2:c.665-5T>C
NM_001286556.2:c.941-5T>C
NM_058187.5:c.950-5T>C
More... 		06/01/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:EVA1C
Accession:XM_047440934
Location:INTRON

Gene Symbol:EVA1C
Accession:XM_017028419
Location:INTRON

Gene Symbol:EVA1C
Accession:NM_058187
Location:INTRON

Gene Symbol:EVA1C
Accession:XM_017028422
Location:INTRON

Gene Symbol:EVA1C
Accession:XM_011529669
Location:INTRON

Gene Symbol:EVA1C
Accession:NM_001320744
Location:INTRON

Gene Symbol:EVA1C
Accession:XM_017028423
Location:INTRON

Gene Symbol:EVA1C
Accession:XM_017028418
Location:INTRON

Gene Symbol:EVA1C
Accession:XM_005261019
Location:INTRON

Gene Symbol:EVA1C
Accession:NM_001320745
Location:INTRON

Gene Symbol:EVA1C
Accession:NM_001286556
Location:INTRON

Gene Symbol:EVA1C
Accession:XM_006724038
Location:INTRON

Gene Symbol:EVA1C
Accession:XM_017028420
Location:INTRON

Gene Symbol:EVA1C
Accession:XM_047440933
Location:INTRON

Gene Symbol:EVA1C
Accession:XR_001754885
Location:INTRON;NON-CODING

Gene Symbol:EVA1C
Accession:NR_104472
Location:INTRON;NON-CODING

Gene Symbol:EVA1C
Accession:NR_135467
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000903357 CLINVAR
dbSNP (RS) rs200503691 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene EVA1C CLINVAR