RGD:405246808 Rat Genome Database

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Variant: RGD:405246808 -  Homo sapiens

RGD ID: 405246808
ClinVar ID: CV3048039
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WRAP53  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 7,604,053
GRCh38 17 7,700,735
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_375t1:c.643-6G>C
NM_001143990.2:c.643-6G>C
NM_001143991.2:c.643-6G>C
NM_001143992.2:c.643-6G>C
More... 		12/01/2022 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:WRAP53
Accession:NM_001143992
Location:INTRON

Gene Symbol:WRAP53
Accession:NM_018081
Location:INTRON

Gene Symbol:WRAP53
Accession:NM_001143990
Location:INTRON

Gene Symbol:WRAP53
Accession:NM_001143991
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003720510 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene WRAP53 CLINVAR
OMIM 612661 CLINVAR