rs763335389 Rat Genome Database

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Variant: rs763335389 -  Homo sapiens

RGD ID: 127277339
RS ID: rs763335389
ClinVar ID: CV1074979
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZFPM2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 106,573,586
GRCh38 8 105,561,358
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001362837.2:c.-95-5T>C
NM_001362836.2:c.143-5T>C
NM_012082.4:c.302-5T>C
NG_011723.2:g.247440T>C
More... 		12/13/2019 intron variant likely benign 46,XY SEX REVERSAL, ZFPM2-RELATED
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ZFPM2
Accession:NM_001362837
Location:5UTRS;INTRON

Gene Symbol:ZFPM2
Accession:XM_047421632
Location:5UTRS;INTRON

Gene Symbol:ZFPM2
Accession:XM_047421634
Location:5UTRS;INTRON

Gene Symbol:ZFPM2
Accession:XM_047421630
Location:5UTRS;INTRON

Gene Symbol:ZFPM2
Accession:XM_047421633
Location:5UTRS;INTRON

Gene Symbol:ZFPM2
Accession:XM_047421629
Location:5UTRS;INTRON

Gene Symbol:ZFPM2
Accession:XM_047421628
Location:5UTRS;INTRON

Gene Symbol:ZFPM2
Accession:NM_012082
Location:INTRON

Gene Symbol:ZFPM2
Accession:NM_001362836
Location:INTRON

Gene Symbol:ZFPM2
Accession:XM_047421627
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001407713 CLINVAR
dbSNP (RS) rs763335389 CLINVAR
MedGen C4015129 CLINVAR
NCBI Gene ZFPM2 CLINVAR
OMIM 603693 CLINVAR
  616067 CLINVAR